Genetic Laboratory
The accredited genetic laboratory offers genetic counselling together with a wide range of cytogenetic and molecular genetic tests. The quality of the examinations performed and the fulfilment of strict criteria arising from international standards are guaranteed by the Certificate of Accreditation and the inclusion of the laboratory in the National Register of Accredited Subjects, which is administered by the Czech Institute for Accreditation, o.p.s. (ČIA).
The department permanently fulfils all the requirements for diagnostic laboratories according to §19 (2) of Act No. 296/2008 Coll., as amended, regularly inspected by the State Office for Drug Control (SÚKL), which authorizes it to examine donors of sex cells.
The laboratory GENvia, s.r.o. is also approved by the State Health Institute (SZÚ) to perform tests for the presence of SARS-CoV-2 RNA by PCR.
Accreditation is a guarantee of the highest quality of the tests performed and is valid throughout the European Union.
The vast majority of examinations are covered by public health insurance. For uninsured clients we can offer examinations under the self-payment scheme.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
Types of testing
A brief overview of the types of testing follows (click on the title for details):
Material for examination:
The examination is performed from short-term (72 hours) cultured peripheral blood lymphocytes. Peripheral blood sampling is performed by a healthcare professional after consulting the client with a clinical geneticist.
Description of examination:
The karyotype test is a basic cytogenetic test. Cytogenetics is a branch of genetics that deals with the analysis of chromosomes. Chromosomes are structures of typical shape, size and number, carriers of genetic information stored in the nuclei of all cells. Each person has 23 pairs of chromosomes (a total of 46 chromosomes), one pair of chromosomes comes from the mother, the other from the father. During conception, 2 sex cells, an egg and a sperm, are joined, each of which carries 1 half of the chromosomal equipment of the future individual.
According to the size and characteristic banding of individual chromosomes, we can compile a so-called karyotype for each individual. A woman and a man have 22 pairs of identical chromosomes (autosomes) and 1 pair of sex chromosomes, the composition of which differs. A woman has 2 sex chromosomes X, a man has one sex chromosome X and one Y. The entry of a normal female karyotype is 46,XX, a normal male karyotype is 46,XY.
Changes in the number or structure of chromosomes (chromosome aberrations) can be observed microscopically. Chromosomes in the so-called metaphase, stained with G-striping, are analyzed. Numerical deviations of entire chromosomes or abnormalities in the structure of individual chromosomes such as deletions, duplications, inversions, insertions, translocations, etc. can be detected in the client’s genetic make-up. The examination provides complete information about the individual’s genetic make-up, but is limited by the size of the aberration of about 10 megabases.
Chromosomal aberrations are the cause of many clinical manifestations and syndromes and can cause congenital malformations, mental retardation, fertility disorders, etc. They are also part of the pathogenesis of cancer.
Report delivery date: 21-28 days/ STATIM 7 days
Price: 6 500 CZK / STATIM 7 500 CZK
The examination is aimed at detecting a microdeletion (missing a small part) of the Y chromosome in the AZF region, which is often associated with male infertility.
The frequency of microdeletion in the AZF region is estimated to be 1/10,000 male births. The AZF region is divided into three subregions designated AZFa, AZFb and AZFc. Genes found in this region are involved in the process of spermatogenesis and are essential for male reproduction. Individual subregions are associated with a certain phase of spermatogenesis. If a microdeletion occurs in the AZFb and AZFc subregions, its phenotypic expression varies from azoospermia to oligozoospermia. Microdeletions in the AZFa subregion are characterized in most cases by the complete absence of spermatogonia (Sertoli cell-only syndrome), which manifests itself as azoospermia in the ejaculate.
Who is the examination intended for?
Males with impaired fertility with severe oligozoospermia or azoospermia
Report delivery date: 14 days
Price: 4 000 CZK
We offer an examination of the 50 most common mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, supplemented by the detection of extensive deletions and duplications of the CFTR gene.
Cystic fibrosis is an inherited disease with a grave prognosis. It ranks among the most common autosomal recessive hereditary diseases, the incidence in the Czech Republic is 1/4,500, while every 26th individual is a carrier of a mutation in the CFTR gene. Cystic fibrosis is a disease that is manifested by the formation of very thick mucus in the respiratory and digestive system. As a result, patients with cystic fibrosis suffer from persistent breathing difficulties, recurrent and chronic respiratory tract infections, digestive problems and general failure of the organism. Males experience infertility with azoospermia as a result of CBAVD (Congenital Bilateral Aplasia of Vas Deferens = they do not have a vas deferens), affected women also have significantly reduced fertility. Very salty sweat may be noted in young children (“salty children”).
The cause of the disease is a mutation in the CFTR gene located on chromosome number 7. The severity of the disease depends on the specific mutation of the CFTR gene, in exceptional cases the disease may not be clinically significant. Early diagnosis of this disease, i.e. within two months of birth, will significantly affect the treatment and related prognosis of the disease.
The examination of the 50 most common mutations of the CFTR gene that we offer covers approximately 92% of all mutations of the CFTR gene in the Czech population. In addition, in the laboratory GENvia, s.r.o. as standard, we supplement the examination with the detection of CFTR gene rearrangements using MLPA (multiple ligation-dependent probe amplification) technology, which captures large-scale deletions (losses) and duplications (doubling) of selected areas of the CFTR gene.
Who is the examination intended for?
Patients with persistent cough, frequent sinus and airway infections
Children who are not sleeping
Newborns with a history of intestinal obstruction and marked salty sweat
Couples with fertility disorders
Partners of a mutation carrier before or during a planned pregnancy
Prenatal testing in couples where both partners are CFTR mutation carriers
Prenatal diagnosis in fetuses with ultrasound findings suspicious for cystic fibrosis
Gamete donors to exclude carrier status
Report delivery date: 14 days
Price: 9 500 CZK
Severe, congenital hearing disorders occur with an incidence of approximately 1/1,000 newborns. In at least 50%, the cause is genetic. 75% of congenital non-syndromic forms of hearing impairment or loss show autosomal recessive inheritance.
The most common cause of autosomal recessive non-syndromic congenital deafness is mutations in the GJB2 gene, which codes for the protein connexin 26. Mutations in the GJB2 gene are responsible for 20-30% of prelingual hearing losses. The estimated frequency of carriers in the Czech population is 1/49. Parents are typically healthy carriers of alleles with a 25% risk of both alleles being affected and therefore hearing impairment for the offspring. Familial occurrence can often be found in deaf partnerships or consanguineous relationships.
The examination of the GJB2 gene is performed in patients with suspected early, genetically determined hearing impairment and according to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP in all gamete donors. As a standard, it is investigated by direct sequencing using the Sanger method, which detects all variants in the coding region of the GJB2 gene. In addition to the coding region of the GJB2 gene, we also analyze the entire sequence of exon 1 and its flanking regions to capture pathogenic variants in the non-coding region of the GJB2 gene. The result is a comprehensive sequence analysis of the entire protein-coding region of the GJB2 gene and adjacent regulatory regions in exon 1 and nearby.
Who is the examination intended for?
Children to determine the cause of congenital prelingual hearing loss
Hearing relatives in families with an identified mutation in the GJB2 gene
Partners of a GJB2 mutation carrier before a planned pregnancy
Partners in a consanguineous relationship
Gamete donors
Report delivery date: 14 days
Price: 9 000 CZK
Hearing loss is one of the most common birth defects today. Severe, congenital hearing loss occurs with an incidence of approximately 1/1,000 newborns. Up to 75% of hearing loss is currently genetically determined. Approximately 80 % of hereditary hearing loss or hearing impairment is autosomal recessive inheritance, especially in severe and congenital forms.
Apart from variants in the GJB2 gene (we also offer testing), the second most common genetic cause of isolated hearing loss in the Czech Republic are causal variants in the STRC gene. Variants in the STRC gene are associated with autosomal recessive nonsyndromic deafness DFNB16. The hearing loss is isolated and usually mild (most often mild to moderate hearing loss). A pathogenic variant of the STRC gene was found in approximately 5.4% of all patients examined and in 14.5% of patients in the familial group. The most common are deletions affecting the coding region of the STRC gene (70% of patients with DFNB16), or large deletions in the long arm of chromosome 15 involving the STRC gene region, possibly together with adjacent regions containing the CATSPER gene, which is responsible for sperm motility (37% of patients with DFNB16).
We offer testing of the STRC gene using the MLPA (multiple ligation-dependent probe amplification) method, which is designed to detect deletions and duplications of a larger extent in the examined region. The detection kit also includes selected sections of the CATSPER2 gene, OTOA, which are responsible for deafness-infertility syndrome (DIS) and autosomal recessive deafness DFNB22, respectively. In the case of DFNB16 and DFNB22 deafness, 68% and 57% of the genetic causes of the disease can be detected by this kit, respectively, and the test is used to confirm the clinical diagnosis of DIS, DFNB16 and DFNB22. We offer STRC gene testing using the multiple ligation-dependent probe amplification (MLPA) method, which is designed to detect deletions and large-scale duplications in the region under investigation. The detection kit also includes selected sections of the CATSPER2 gene, OTOA, which are responsible for deafness-infertility syndrome (DIS) and autosomal recessive deafness DFNB22, respectively. In the case of DFNB16 and DFNB22 deafness, 68% and 57% of the genetic causes of the disease can be detected by this kit, respectively, and the test is used to confirm the clinical diagnosis of DIS, DFNB16 and DFNB22. MLPA testing in the STRC, CATSPER2 and OTOA region is also recommended to screen for insertions/deletions prior to NGS testing of a panel of hearing loss-associated genes.
Who is the examination intended for?
Children to determine the cause of congenital hearing loss
Hearing relatives in families with an identified variant in the STRC gene
Partners of STRC gene variant carriers before planned pregnancy
Partners in a consanguineous relationship
Report delivery time: 14 days
Price: 7 500 CZK
Fragile X syndrome is an X-linked inherited disease caused by a trinucleotide repeat expansion in the FMR1 gene. The phenotypic manifestation of the fragile X syndrome is a varying degree of mental retardation in association with dysmorphic features (high forehead, narrow, elongated face, prominent chin, large protruding ears, etc.). The manifestation of the phenotype is relatively non-specific and variable, especially in prepubertal boys, which leads to difficulties in clinical diagnosis. Also, girls as carriers of the full mutation can show varying degrees of mental retardation.
The variability of clinical manifestation is a consequence of the mitotic instability of the trinucleotide repeat region of the FMR1 gene and subsequent somatic mosaicism, where fully mutant and premutated alleles coexist.
A number of 6–44 repeats is considered normal, followed by a gray zone of 45–54 repeats, where carriers have healthy children, but there is a risk of an increase in the number of repeats and the appearance of a premutant or mutant allele in subsequent generations. A lower number of repetitions (55–200) is referred to as a so-called premutation. Carriers of the premutation are not affected by mental retardation, but men may develop tremor and ataxia syndrome (fragile X tremor/ataxia syndrome) associated with Parkinson’s disease and dementia in adulthood, and about 20% of female carriers of the premutation suffer from premature ovarian failure. A premutation in the gene is relatively unstable during gametogenesis or early embryogenesis, and therefore women with the premutation are at risk of having an offspring that expands the repeats into a full mutation. When expanded above 200 repeats (full mutation), the gene is inactivated and the phenotype typical of fragile X syndrome is fully developed.
Who is the examination intended for?
Individuals with varying degrees of mental retardation
Individuals with dysmorphic facial features with suspected fragility X syndrome
Individuals with a positive family history Women with premature ovarian failure
Report delivery date: 14 days
Price: 8 000 CZK
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by a defect in the SMN1 gene.
SMA is characterized by progressive symmetrical, especially proximal muscle weakness. Gradually, muscle hypotrophy to atrophy and contractures develop, and scoliosis is common. It is manifested by marked muscle hypotonia, limb hypo- to areflexia, tongue fasciculations and respiratory difficulties may occur. Without treatment, muscle weakness often leads to loss of the ability to walk independently, and in more severe forms to the development of respiratory insufficiency with the need for artificial pulmonary ventilation. Anamnestically, the clinical picture is dominated by loss of motor skills and delayed uprightness with normal mental development. The incidence of the disease is around 1/10,000 births. The estimated carrier frequency in European populations is 1/37 individuals. Previously a causally incurable disease, it is now newly treatable with gene therapy drugs. The time of initiation of treatment is crucial in patient prognosis, hence the acute need for early diagnosis.
A total of 95% of SMA patients have a homozygous deletion of exon 7 of the SMN1 gene. The remaining 5% of patients are heterozygotes carrying a deletion of exon 7 of the SMN1 gene on one chromosome and a small pathogenic sequence variant on the other.
The SMN1 gene and its nearly identical copy, the SMN2 gene, are located on chromosome 5q13.2. The SMN2 gene produces predominantly a transcript with an excised exon 7, the translation of which produces an unstable and non-functional protein. In addition to the transcript without exon 7, the SMN2 gene produces a small amount of full-length transcript and thus a small amount of functional SMN2 protein. Thus, patients with multiple copies of SMN2 have milder SMA phenotypes.
We offer copy number testing of exons 7 and 8 of the SMN1 gene to diagnose SMA or SMA carriage. The examination is based on the principle of MLPA (multiple ligation-dependent probe amplification) and is designed to detect deletions and duplications of selected regions. This kit can also be used to detect the copy number of exon 7 and 8 of the SMN2 gene, as interpretive aids in determining the copy number of the SMN1 gene.
Who is the examination intended for?
Patients with a suspected diagnosis of SMA
Clients with a positive family history
Gamete donors
Report delivery date: 14 days
Price: 7 500 CZK
Examination of thrombophilic mutations is performed in patients with an increased tendency to blood clotting and venous thrombosis.
Venous thrombosis is a clinically serious disease with an incidence of 0.5–1.2/1,000 inhabitants. The causes contributing to the development of this disease include clinical factors (obesity, injuries, surgical procedures, medications, etc.) and genetic factors (mutations in the genes encoding factor C, protein S, antithrombin, prothrombin and factor V).
Thrombophilic mutations occur in approximately 8% of the population in the Czech population and are associated with the risk of acute stroke, myocardial infarction and pulmonary embolism. In gynecology and obstetrics, thrombophilic mutations increase the risk of certain serious conditions during pregnancy and childbirth, up to 8 times (e.g. repeated spontaneous abortions in the first trimester of pregnancy, placental abruption, intrauterine fetal growth retardation, etc.). In women with a thrombophilic mutation, the risk of thrombosis may be further increased by the use of hormonal contraception.
The most significant genetic factor is a variant in the factor V gene (Leiden mutation, G1691A). The heterozygous form of the Leiden mutation increases the risk of thrombosis 3-8 times, the homozygous form represents an 80-fold higher risk.
The second most common genetic factor associated with venous thrombosis is a mutation in the prothrombin gene (G20210A).
Other genetic factors include polymorphisms in the MTHFR gene (A1298C, C677T) involved in the development of homocystinuria and hyperhomocysteinemia and subsequent increased risk of atherosclerosis, venous and arterial thrombosis, myocardial infarction, and stroke. Pregnant women homozygous for the MTHFR gene variant have an increased risk of cleft birth defects, especially of the spine and central nervous system.
Furthermore, the 4G polymorphism in the promoter of the PAI-1 gene contributes to the increased risk, the presence of which together with any of the genetic factors described above increases the risk of thrombosis, which is associated with a higher risk of myocardial infarction and other acute coronary events.
We offer examination of the Leiden mutation in the gene for the coagulation factor Factor V (G1691A), mutation G20210A in the gene for prothrombin (gene for coagulation factor II), examination of polymorphisms C677T, A1298C of the MTHFR gene and polymorphism 4G in the promoter of the PAI-1 gene.
Who is the examination intended for?
Patients with a positive family history
Patients with recurrent miscarriages
Women before planned hormonal stimulation
Report delivery date: 14 days
Price: 1 200 CZK for one option from the offered spectrum
An incorrect number of chromosomes (chromosomal aneuploidy) is one of the causes of embryo failure or miscarriage in the early stages of pregnancy. During assisted reproduction, the incorrect number of chromosomes of the embryo that was transferred to the mother’s uterus can be one of the many causes of IVF cycle failure. For couples with fertility problems undergoing treatment with assisted reproduction methods, genetic testing of the embryo can be offered before it is transferred to the uterus. The examination will make it possible to select promising embryos without an identifiable genetic abnormality and discard embryos with incorrect chromosomal makeup.
Preimplantation genetic testing enables genetic testing of embryos that are obtained by assisted reproduction methods, even before they are transferred to the uterus. From the embryos, one or two cells (blastomeres) obtained from the embryo on day 3 (72 hours) after fertilization or, more often, more cells obtained from the trophoectoderm of a 5-day-old blastocyst are taken. Cells of the future placenta, which are not crucial for the further development of the embryo, are biopsied. The collection of cells intended for genetic examination is carried out by an embryologist in vitro using micromanipulation techniques. The obtained cells are then sent to the laboratory for genetic examination and the embryo is frozen for possible transfer in one of the following cycles.
GENvia Laboratory, s.r.o. offers preimplantation genetic testing using “next generation sequencing” (NGS) technology. NGS technology ranks among the most modern approaches currently available in the field of preimplantation genetic testing. It provides a comprehensive, accurate and comprehensive screening of all 24 chromosomes of the examined material. DNA for preimplantation genetic screening can come from a blastomere biopsy of a three-day embryo or a trophoectoderm biopsy derived from a blastocyst. The technology is intended for the detection of aneuploidy of entire chromosomes. Based on the examination of numerical deviations of the entire chromosome set, it is possible to determine probably euploid embryos. Selected suitable, probably euploid embryos can then be used for transfer to the uterus. Choosing the right embryo for transfer can reduce the risk of an abnormal pregnancy, reduce the risk of miscarriage, increase the chance of successful implantation and thus increase the chance of success in in vitro fertilization and the birth of a healthy baby.
Who is the examination intended for?
Couples undergoing assisted reproduction in the following cases:
Older age of the woman – over 35 years at the time of expected delivery
Repeated failures of previous assisted reproduction cycles – min. 2 times
Repeated pregnancy losses after excluding other possible causes – min. 2 times
Numerical aberrations (e.g. 47.XXX; 47.XYY) and small mosaics (over 10%) of sex chromosomes detected from peripheral blood
Andrological factor (e.g. severe oligo-astheno-teratospermia) or use of MESA/TESE-derived sperm in assisted
reproduction
Delivery or abortion of a child (foetus) with chromosomal aneuploidy
History of chemotherapy or radiotherapy in one or both partners
Report delivery date: 28 days
Price: on request
If indicated, other genetic tests may be offered.
Examinations are covered by public health insurance. For uninsured clients, we can offer examinations in a self-pay mode.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
We offer rapid prenatal testing of amniotic fluid, fetal blood or chorionic villi to detect the most common chromosomal aneuploidies
13, 18, 21, X and Y.
The examination is always carried out as a priority with a guaranteed result within 48 hours.
Numerical deviations (aneuploidy) of chromosomes 13, 18, 21, X and Y make up the majority of chromosomal abnormalities responsible for the birth of an affected child. This is primarily an extra copy (trisomy) of chromosomes number 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome), X (XXX syndrome, XXY – Klinefelter syndrome) or a missing copy (monosomy) of chromosome X (Turner syndrome) ).
The examination is carried out based on the indication of a clinical geneticist. The collection of amniotic fluid, fetal blood or chorionic villi is performed by a specialist doctor. Collection of chorionic villi is usually performed from week 11 to 15 weeks of pregnancy and collection of amniotic fluid from week 16 to week 21 weeks of pregnancy.
We use the standard method of quantitative fluorescent PCR (so-called amnioPCR), which enables rapid prenatal detection of the most common aneuploidies (chromosomes 13, 18, 21, X and Y) using highly polymorphic markers (short tandem repeats) specific for each chromosome. The examination is performed by amplifying DNA fragments isolated directly from fetal cells contained in amniotic fluid, fetal blood or chorionic biopsy. To exclude the influence of maternal DNA on the examination result, DNA isolated from a sample of the mother’s buccal mucosa is simultaneously processed and examined.
The method does not replace the determination of the karyotype, as it focuses on the most common aneuploidies of chromosomes 13, 18, 21, X and Y. The main advantage of the amnioPCR method is the time during which the examination result is available to the referring physician.
Who is the examination intended for?
Clients with positive biochemical screening in pregnancy or when fetal abnormalities are found during ultrasound examination
Pregnant clients of advanced age
Clients with a family history of genetic disease
Clients with multiple risk factors in pregnancy
Report delivery date: 48 hours (2 work. days)
Price: 6 000 CZK
In the case of aborted fetuses, there is often a failure of tissue culture, which is caused by the death of cells and their inability to divide. Due to unsuccessful cultivation, a standard karyotype examination, i.e. a microscopic analysis of the entire chromosome set, is not possible. In these cases, it is advisable to choose, as the method of first choice, an alternative method of examining the most common aneuploidies found in aborted fetuses.
This method is an extended amnioPCR examination that targets the most frequently affected chromosomes, i.e. numerical deviations of chromosomes 13, 15, 16, 18, 21, 22, X and Y. Trisomy (genetic deviation in which a certain chromosome in the cell is three instead of the normal number of two) chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome) and X (XXX syndrome, XXY Klinefelter syndrome) often cause severe congenital developmental defects of the fetus, which are, however, compatible with life. Trisomy of chromosomes 15, 16, 22 and monosomy (the chromosome is represented in the cell in only one copy) of all the mentioned chromosomes (with the exception of chromosome X) cause defects incompatible with life, leading to pregnancy losses or death in the early postnatal stage.
The amnioPCR method (quantitative fluorescent PCR) enables rapid detection of the most common aneuploidies of selected chromosomes using highly polymorphic markers of the type of short tandem repeats, specific for each chromosome. The method does not replace a karyotype examination. However, it can also be used for samples where a standard examination cannot be guaranteed due to the possible failure of cell cultivation. The examination uses DNA isolated directly from the cells of the aborted tissue. The sample is taken under ultrasound control by professionally trained personnel at a specialized workplace. The most suitable part of the fetal muscle tissue for examination is transferred to a sterile test tube with 5-10 ml of physiological solution. To exclude the influence of maternal DNA on the examination result, DNA isolated from a sample of the mother’s buccal mucosa is simultaneously processed and examined.
Who is the examination intended for?
Clients after spontaneous or induced abortion
Report delivery date: 48 hours (2 work. days)
Price: 7 200 CZK
Material for examination:
Delivered DNA, amniotic fluid, fetal blood, chorionic tissue, aborted tissue, peripheral blood.
The collection of a sample of amniotic fluid, chorionic villi and fetal blood is performed by a specialist doctor after consulting the client with a clinical geneticist. Collection of chorionic villi is usually performed from week 11 to week 15 of pregnancy, collection of amniotic fluid from week 16 to week 21 of pregnancy and collection of fetal blood from week 18 of pregnancy. The doctor collects the aborted tissue during the procedure. The collection of a peripheral blood sample is performed by a healthcare professional after consulting the client with a clinical geneticist.
Samples can be processed without the need for cell culture or cultured.
Description of examination:
The arrayCGH chip technology is a molecular genetic method based on comparative genomic hybridization. Comparative analysis on the chip evaluates the patient’s DNA against reference DNA (healthy man, healthy woman). The probes used represent the whole genome and overlap with clinically relevant syndromes and genes. The results of the hybridization reactions are scanned by a laser scanner and evaluated by software. The method is capable of detecting changes of several tens to hundreds of kilobases.
The method is able to detect changes in the number of copies of whole chromosomes or their parts (deletion/duplication). A number of genetic syndromes are usually associated with submicroscopic deletions or duplications of part of the chromosomes, which are difficult to detect with ordinary cytogenetic examinations. In particular, microdeletion syndromes can be the cause of a number of physical, mental, developmental or reproductive abnormalities (the deletion often affects 1 or more genes necessary for the proper functioning of the organism). ArrayCGH is a reliable tool for detecting these genome-wide changes. Thanks to its high resolution, it detects most syndromes and abnormalities that have not yet been described and whose clinical significance is not yet known.
The method cannot capture point mutations, balanced structural aberrations and low-frequency mosaics. If the last two aforementioned aberrations are suspected, a karyotype examination and examination by the FISH method may be indicated.
ArrayCGH is mainly used in prenatal genetic counseling. In postnatal diagnosis, it contributes to clarifying the results of previous examinations. to establish a diagnosis by detecting known and unknown microdeletion/microduplication syndromes.
Who is the examination intended for in prenatal care?
Female clients in the outpatient clinic of a gynaecologist or ultrasound specialist who have been diagnosed with:
Abnormal ultrasound screening for congenital developmental defects
Intrauterine growth retardation
Older age of the pregnant woman (over 35 years)
Genetic load in the family
Parental carriage of balanced chromosome aberrations
History of repeated spontaneous abortions in the parents
Who is the examination intended for in the context of postnatal care?
First choice method for patients with mental retardation, psychomotor retardation, autistic symptoms
Multiple congenital developmental pathologies (physical, mental)
Metabolic disorders
Genetic burden in the family
Clarification of findings from previous examinations
Clarification of family history of healthy parents with pathologies in offspring or fetus
Clients with normal findings by classical methods and yet abnormalities in their phenotype
Report delivery time: 7-28 days / STATIM 7 days
Price: 25,000 CZK / STATIM 30,000 CZK
We offer an examination of the 50 most common mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, supplemented by the detection of extensive deletions and duplications of the CFTR gene.
Cystic fibrosis is an inherited disease with a grave prognosis. It ranks among the most common autosomal recessive hereditary diseases, the incidence in the Czech Republic is 1/4,500, while every 26th individual is a carrier of a mutation in the CFTR gene. Cystic fibrosis is a disease that is manifested by the formation of very thick mucus in the respiratory and digestive system. As a result, patients with cystic fibrosis suffer from persistent breathing difficulties, recurrent and chronic respiratory tract infections, digestive problems and general failure of the organism. Males experience infertility with azoospermia as a result of CBAVD (Congenital Bilateral Aplasia of Vas Deferens = they do not have a vas deferens), affected women also have significantly reduced fertility. Very salty sweat may be noted in young children (“salty children”).
The cause of the disease is a mutation in the CFTR gene located on chromosome number 7. The severity of the disease depends on the specific mutation of the CFTR gene, in exceptional cases the disease may not be clinically significant. Early diagnosis of this disease, i.e. within two months of birth, will significantly affect the treatment and related prognosis of the disease.
The examination of the 50 most common mutations of the CFTR gene that we offer covers approximately 92% of all mutations of the CFTR gene in the Czech population. In addition, in the laboratory GENvia, s.r.o. as standard, we supplement the examination with the detection of CFTR gene rearrangements using MLPA (multiple ligation-dependent probe amplification) technology, which captures large-scale deletions (losses) and duplications (doubling) of selected areas of the CFTR gene.
Who is the examination intended for?
Patients with persistent cough, frequent sinus and airway infections
Children who are not sleeping
Newborns with a history of intestinal obstruction and marked salty sweat
Couples with fertility disorders
Partners of a mutation carrier before or during a planned pregnancy
Prenatal testing in couples where both partners are CFTR mutation carriers
Prenatal diagnosis in fetuses with ultrasound findings suspicious for cystic fibrosis
Gamete donors to exclude carrier status
Report delivery date: 14 days
Price: 9 500 CZK
We offer an examination of the entire protein-coding sequence of the DHCR7 gene.
Variants in the DHCR7 gene are associated with the development of Smith – Lemli – Opitz syndrome (SLOS). It is an autosomal recessive disease with manifestations of mental retardation, facial dysmorphism, syndactyly of the second or third finger, malformation of internal organs or holoprosencephaly. The disease can manifest itself prenatally, the suspicion is usually expressed on the basis of an ultrasound finding in the 21st week (less often already in the 1st trimester), and the finding can be a reason to terminate the pregnancy. Sometimes the disease manifests itself soon after birth, congenitally. SLOS is the third most common inherited metabolic disorder after cystic fibrosis and phenylketonuria. It occurs with a frequency of 1:20,000 to 1:40,000 and is more common in the European population than in the Asian or African population. In the Czech Republic, the reported frequency is 1:10,000. This means that the frequency of carriers is up to 2% of the population.
The main cause of SLOS development is variants in the DHCR7 gene, which codes for the 7-dehydrocholesterol reductase protein. 7-dehydrocholesterol enzyme
reductase is of catalytic importance in the final stage of cholesterol biosynthesis. Deficiency in the DHCR7 gene results in abnormally low activity of the encoded enzyme leading to abnormalities in cholesterol metabolism and the clinical manifestation of SLOS disease.
Mutations causing SLOS occur throughout the protein coding sequence of the DHCR7 gene, therefore the investigation is focused on the entire coding sequence of the causal gene by direct sequencing followed by analysis of all found sequence variants of the analyzed region. Subsequently, the examination is supplemented by the analysis of large gene rearrangements by the MLPA method, which captures duplications and deletions of the DHCR7 gene, which are associated with SLOS.
Who is the examination intended for as part of prenatal care?
Suspected SLOS prenatally and postnatally: microcephaly, facial dysmorphism, cleft palate, malformations of the heart, lungs, liver, pancreas, kidneys and adrenal glands, genital abnormalities, syndactyly of the second and third fingers, polydactyly
Report delivery date: 14 days
Price: 25 000 CZK
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by a defect in the SMN1 gene.
SMA is characterized by progressive symmetrical, especially proximal muscle weakness. Gradually, muscle hypotrophy to atrophy and contractures develop, and scoliosis is common. It is manifested by marked muscle hypotonia, limb hypo- to areflexia, tongue fasciculations and respiratory difficulties may occur. Without treatment, muscle weakness often leads to loss of the ability to walk independently, and in more severe forms to the development of respiratory insufficiency with the need for artificial pulmonary ventilation. Anamnestically, the clinical picture is dominated by loss of motor skills and delayed uprightness with normal mental development. The incidence of the disease is around 1/10,000 births. The estimated carrier frequency in European populations is 1/37 individuals. Previously a causally incurable disease, it is now newly treatable with gene therapy drugs. The time of initiation of treatment is crucial in patient prognosis, hence the acute need for early diagnosis.
A total of 95% of SMA patients have a homozygous deletion of exon 7 of the SMN1 gene. The remaining 5% of patients are heterozygotes carrying a deletion of exon 7 of the SMN1 gene on one chromosome and a small pathogenic sequence variant on the other.
The SMN1 gene and its nearly identical copy, the SMN2 gene, are located on chromosome 5q13.2. The SMN2 gene produces predominantly a transcript with an excised exon 7, the translation of which produces an unstable and non-functional protein. In addition to the transcript without exon 7, the SMN2 gene produces a small amount of full-length transcript and thus a small amount of functional SMN2 protein. Thus, patients with multiple copies of SMN2 have milder SMA phenotypes.
We offer copy number testing of exons 7 and 8 of the SMN1 gene to diagnose SMA or SMA carriage. The examination is based on the principle of MLPA (multiple ligation-dependent probe amplification) and is designed to detect deletions and duplications of selected regions. This kit can also be used to detect the copy number of exon 7 and 8 of the SMN2 gene, as interpretive aids in determining the copy number of the SMN1 gene.
Who is the examination intended for?
Patients with a suspected diagnosis of SMA
Clients with a positive family history
Gamete donors
Report delivery date: 14 days
Price: 7 500 CZK
Achondroplasia, hypochondroplasia and thanatophoric dysplasia are among the most common forms of bone dysplasias, which are bone growth disorders. These are autosomal dominant diseases resulting from a defect in genetic information that interferes with proper bone development. It is most often the result of a pathogenic variant in the gene encoding the fibroblast growth factor receptor (FGFR3).
Pathogenic variants in the FGFR3 gene are responsible for increased cell signalling mediated by the fibroblast growth factor receptor in chondrocytes and maturing osteoblasts (cartilage and bone cells). Increased signaling then ultimately results in a suspension of proliferation and maturation of chondrocyte growth cartilage, a reduction in cartilage size, a reduction in trabecular bone volume, and a decrease in bone lengthening. As a consequence, various forms of bone dysplasias and craniosynostoses occur.
Achondroplasia is one of the most common forms of dysproportional dwarfism, called dwarfism. In 80% of cases, the disease is caused by a newly developed mutation in the FGFR3 gene. Increasing paternal age plays an important role in the development of mutations. The disease is characterized by significant morphological changes- shortening of long bones, macrocephaly, bulging forehead, hypoplasia of the midface with saddle-shaped nasal root, pronounced lumbar lordosis together with thoracic kyphosis. The intellect is not affected. Hypochondroplasia is a milder form of the disease with variable penetrance. There is shortening of the long bones, the morphology of the skull is less affected, facial features are usually normal, macrocephaly may be present, as well as intellectual deficiency or epilepsy. Thanatophoric dysplasia is a lethal form of the disease with marked shortening of the long bones, narrow chest with shortened ribs, macrocephaly and facial dysmorphism. A trefoil-shaped head is usually present. Translated with DeepL.com (free version)
Pathogenic variants of FGFR3 gene responsible for achondroplasia, hypochondroplasia, thanatophoric dysplasia are mainly concentrated in exons 7, 10, 13, 15 and 19. Only in rare cases do pathogenic variants occur in other regions of the FGFR3 coding sequence or in other genes. We offer the examination of the entire coding sequence of exons 7, 10, 13, 15 and 19 by Sanger sequencing.
Who is the examination intended for?
To confirm the diagnosis in children and adults with disproportionately small stature
Prenatally in fetuses where at least one parent has achondro/hypochondroplasia
Prenatally in fetuses where achondroplasia has been diagnosed in a previous pregnancy
Prenatally in fetuses for ultrasound findings suspicious for any form of bone dysplasia
To parents of children with hypochondroplasia
In fetuses after termination of pregnancy for suspected thanatophoric dysplasia
Report delivery date: 14 days
Price:
achondroplasia + hypochondroplasia: 7 500 CZK
thanatophoric dysplasia: 10 000 CZK
achondroplasia + hypochondroplasia + thanatophoric dysplasia: 12 500 CZK
The karyotype examination is a basic cytogenetic examination. Cytogenetics is a branch of genetics that deals with the analysis of chromosomes. Chromosomes are structures of typical shape, size and number, carriers of genetic information stored in the nuclei of all cells. Each person has 23 pairs of chromosomes (a total of 46 chromosomes), one pair of chromosomes comes from the mother, the other from the father. During conception, 2 sex cells, an egg and a sperm, are joined, each of which carries 1 half of the chromosomal equipment of the future individual.
According to the size and characteristic banding of individual chromosomes, we can compile a so-called karyotype for each individual. A woman and a man have 22 pairs of identical chromosomes (autosomes) and 1 pair of sex chromosomes, the composition of which differs. A woman has 2 sex chromosomes X, a man has one sex chromosome X and one Y. The entry of a normal female karyotype is 46,XX, a normal male karyotype is 46,XY.
Changes in the number or structure of chromosomes (chromosome aberrations) can be observed microscopically. Chromosomes in the so-called metaphase, stained with G-striping, are analyzed. Numerical deviations of entire chromosomes or abnormalities in the structure of individual chromosomes such as deletions, duplications, inversions, insertions, translocations, etc. can be detected in the client’s genetic make-up. The examination provides complete information about the individual’s genetic make-up, but is limited by the size of the aberration of about 10 megabases.
Chromosomal aberrations are the cause of many clinical manifestations and syndromes and can cause congenital malformations, mental retardation, fertility disorders, etc. They are also part of the pathogenesis of cancer.
The examination can be indicated prenatally, to determine the chromosomal makeup of the fetus, or postnatally, most often in infertile couples, gamete donors, or in the case of suspected congenital chromosomal aberration in an individual.
List of offered variants of karyotype examination:
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Examination of the karyotype from the amniotic fluid
Material for examination:
The collection of amniotic fluid is performed by a specialist doctor after consulting the client with a clinical geneticist. Collection of amniotic fluid is usually carried out between the 16th and 21st week of pregnancy. The examination is carried out from cultured amniotic fluid cells. The collection of amniotic fluid is performed by a specialist doctor after consulting the client with a clinical geneticist. Collection of amniotic fluid is usually carried out between the 16th and 21st week of pregnancy. The examination is carried out from cultured amniotic fluid cells.
Who is the examination intended for?
Female clients in the outpatient clinic of a gynaecologist or ultrasound specialist who have been diagnosed with:
Abnormal biochemical screening for congenital developmental defects
Abnormal ultrasound screening for congenital developmental defects
Intrauterine growth retardation
Advanced gestational age (over 35 years)
Genetic load in the family
Parental carriage of balanced chromosome aberrations
History of repeated spontaneous abortions in the parents
Report delivery date: 17-28 days
Price: 8 500 CZK
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Examination of the karyotype from chorionic tissue
Material for examination:
Chorionic tissue collection is performed by a specialist physician after the client has consulted with a clinical geneticist. Chorionic villus tissue collection is usually performed between 11-15 weeks of pregnancy. The examination is performed on cultured chorionic tissue cells.
Who is the examination intended for?
Female clients in the outpatient clinic of a gynaecologist or ultrasound specialist who have been diagnosed with:
Abnormal biochemical screening for congenital developmental defects
Abnormal ultrasound screening for congenital developmental defects
Intrauterine growth retardation
Advanced gestational age (over 35 years)
Genetic load in the family
Parental carriage of balanced chromosome aberrations
History of repeated spontaneous abortions in the parents
Report delivery date: 17-28 days
Price: 9 500 CZK
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Examination of the karyotype from fetal blood
Material for examination:
Fetal blood collection is performed by a specialist physician after the client has consulted with a clinical geneticist. Fetal blood collection is usually performed from the 18th week of pregnancy. The examination is performed on cultured fetal blood lymphocytes.
Who is the examination intended for?
Female clients in the outpatient clinic of a gynaecologist or ultrasound specialist who have been diagnosed with:
Abnormal biochemical screening for congenital developmental defects
Abnormal ultrasound screening for congenital developmental defects
Intrauterine growth retardation
Advanced gestational age (over 35 years)
Genetic load in the family
Parental carriage of balanced chromosome aberrations
History of repeated spontaneous abortions in the parents
Report delivery date: 7 days
Price: 7 500 CZK
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Examination of the karyotype from aborted tissue
Material for examination:
Collection of the aborted tissue is performed by the physician during the procedure. The indication for examination of aborted tissue is carried out by a gynecologist or a clinical geneticist. The examination is carried out from cultured cells of the aborted tissue.
Who is the examination intended for?
Clients who have had a spontaneous or induced abortion and where the presence of a congenital chromosomal aberration of the fetus is suspected.
Report delivery date: 21-28 days
Price: 9 500 CZK
If indicated, other genetic tests may be offered.
Examinations are covered by public health insurance. For uninsured clients, we can offer examinations in a self-pay mode.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
Preimplantation genetic testing of aneuploidy (PGT-A)
An incorrect number of chromosomes (chromosomal aneuploidy) is one of the causes of embryo failure or miscarriage in the early stages of pregnancy. During assisted reproduction, the incorrect number of chromosomes of the embryo that was transferred to the mother’s uterus can be one of the many causes of IVF cycle failure. For couples with fertility problems undergoing treatment with assisted reproduction methods, genetic testing of the embryo can be offered before it is transferred to the uterus. The examination will make it possible to select promising embryos without an identifiable genetic abnormality and discard embryos with incorrect chromosomal makeup.
Preimplantation genetic testing enables genetic testing of embryos that are obtained by assisted reproduction methods, even before they are transferred to the uterus. From the embryos, one or two cells (blastomeres) obtained from the embryo on day 3 (72 hours) after fertilization or, more often, more cells obtained from the trophoectoderm of a 5-day-old blastocyst are taken. Cells of the future placenta, which are not crucial for the further development of the embryo, are biopsied. The collection of cells intended for genetic examination is carried out by an embryologist in vitro using micromanipulation techniques. The obtained cells are then sent to the laboratory for genetic examination and the embryo is frozen for possible transfer in one of the following cycles.
GENvia Laboratory, s.r.o. offers preimplantation genetic testing using “next generation sequencing” (NGS) technology. NGS technology ranks among the most modern approaches currently available in the field of preimplantation genetic testing. It provides a comprehensive, accurate and comprehensive screening of all 24 chromosomes of the examined material. DNA for preimplantation genetic screening can come from a blastomere biopsy of a three-day embryo or a trophoectoderm biopsy derived from a blastocyst. The technology is intended for the detection of aneuploidy of entire chromosomes. Based on the examination of numerical deviations of the entire chromosome set, it is possible to determine probably euploid embryos. Selected suitable, probably euploid embryos can then be used for transfer to the uterus. Choosing the right embryo for transfer can reduce the risk of an abnormal pregnancy, reduce the risk of miscarriage, increase the chance of successful implantation and thus increase the chance of success in in vitro fertilization and the birth of a healthy baby.
Who is the examination intended for?
Couples undergoing assisted reproduction in the following cases:
Older age of the woman – over 35 years at the time of expected delivery
Repeated failures of previous assisted reproduction cycles – min. 2 times
Repeated pregnancy losses after excluding other possible causes – min. 2 times
Numerical aberrations (e.g. 47.XXX; 47.XYY) and small mosaics (over 10%) of sex chromosomes detected from peripheral blood
Andrological factor (e.g. severe oligo-astheno-teratospermia) or use of MESA/TESE-derived sperm in assisted
reproduction
Delivery or abortion of a child (foetus) with chromosomal aneuploidy
History of chemotherapy or radiotherapy in one or both partners
Report delivery date: 28 days
Price: on request
If indicated, other genetic tests may be offered.
The examination is covered by public health insurance. For uninsured clients, we can offer the examination in a self-pay mode.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
Paternity expertise is used to determine the relationship of persons (father and son/daughter) based on genetic examination.
The genetic material (DNA) of each individual contains, among others, a set of characters that are very diverse (polymorphic) in the population. This means that each individual has a specific unique combination of these characteristics (the so-called DNA profile), which is characteristic for each person, similar to a fingerprint. At the same time, these polymorphic characters are hereditary, i.e. that we inherit half of our traits from our father and half from our mother.
In the genetic examination of kinship, the unique genetic profile of each examined individual is determined using the analysis of genetic material (DNA). The genetic profile is then compared between individual test subjects using analytical software. At the same time, the frequency of individual characters in the population is also taken into account in the analysis.
The result of a complex comparison is the probability with which the kinship of the tested persons can be confirmed or excluded. In the event of a mismatch of genetic characteristics, paternity can be excluded, in the event of a match, the degree of probability with which the kinship of the tested persons can be confirmed is evaluated (usually 99.99% or more).
Our laboratory uses a commercially supplied identification kit, which is among the most comprehensive validated detection kits in the world and meets the international criteria of the leading forensic organizations Scientific Working Group on DNA Analysis
Methods (SWGDAM) and the DNA Advisory Board (DAB).
Who is the examination intended for?
To all clients who are interested in genetic confirmation/exclusion of kinship of tested persons
How is the examination performed?
The examination can be performed as standard from a peripheral blood sample . An examination can be offered using tissue obtained by sampling the cells of the oral cavity mucosa – a simple painless swab of the inner side of the cheek
Report delivery date: 14 days / STATIM 7 days
Price:
7 500 CZK (classic father/mother/child trio) / STATIM 10 500 CZK
2 500 CZK for each additional potential client examined
If indicated, other genetic tests may be offered.
Examination of thrombophilic mutations is performed in patients with an increased tendency to blood clotting and venous thrombosis.
Venous thrombosis is a clinically serious disease with an incidence of 0.5–1.2/1,000 inhabitants. The causes contributing to the development of this disease include clinical factors (obesity, injuries, surgical procedures, medications, etc.) and genetic factors (mutations in the genes encoding factor C, protein S, antithrombin, prothrombin and factor V).
Thrombophilic mutations occur in approximately 8% of the population in the Czech population and are associated with the risk of acute stroke, myocardial infarction and pulmonary embolism. In gynecology and obstetrics, thrombophilic mutations increase the risk of certain serious conditions during pregnancy and childbirth, up to 8 times (e.g. repeated spontaneous abortions in the first trimester of pregnancy, placental abruption, intrauterine fetal growth retardation, etc.). In women with a thrombophilic mutation, the risk of thrombosis may be further increased by the use of hormonal contraception.
The most significant genetic factor is a variant in the factor V gene (Leiden mutation, G1691A). The heterozygous form of the Leiden mutation increases the risk of thrombosis 3-8 times, the homozygous form represents an 80-fold higher risk.
The second most common genetic factor associated with venous thrombosis is a mutation in the prothrombin gene (G20210A).
Other genetic factors include polymorphisms in the MTHFR gene (A1298C, C677T) involved in the development of homocystinuria and hyperhomocysteinemia and subsequent increased risk of atherosclerosis, venous and arterial thrombosis, myocardial infarction, and stroke. Pregnant women homozygous for the MTHFR gene variant have an increased risk of cleft birth defects, especially of the spine and central nervous system.
Furthermore, the 4G polymorphism in the promoter of the PAI-1 gene contributes to the increased risk, the presence of which together with any of the genetic factors described above increases the risk of thrombosis, which is associated with a higher risk of myocardial infarction and other acute coronary events.
We offer examination of the Leiden mutation in the gene for the coagulation factor Factor V (G1691A), mutation G20210A in the gene for prothrombin (gene for coagulation factor II), examination of polymorphisms C677T, A1298C of the MTHFR gene and polymorphism 4G in the promoter of the PAI-1 gene.
Who is the examination intended for?
Patients with a positive family history
Patients with recurrent miscarriages
Women before planned hormonal stimulation
Report delivery date: 14 days
Price: 1 200 CZK for one option from the offered spectrum
Celiac disease (celiac sprue, gluten enteropathy) is a genetically determined autoimmune inflammatory disease manifested by damage to the mucosa of the small intestine.
The main role in the pathogenesis of celiac disease is played by the complex immune system of the small intestine mucosa. As a result of intolerance to gluten (gluten) contained in cereals, a complex immune reaction occurs in genetically predisposed persons with the production of a number of cytokines and the activation of other T-, B-lymphocytes and NK cells. At the same time, there is a powerful antibody response with the formation of a series of detectable antibodies in the serum. Ultimately, there is a gradual smoothing of the mucous membrane of the small intestine with a decrease in intestinal villi and subsequent malabsorption (insufficient absorption of nutrients).
Typical symptoms are diarrhea, abdominal pain, flatulence, failure to thrive and weight loss. Celiac disease has a high variability of manifestations with different time of manifestation of symptoms. It can manifest itself after the first inclusion of gluten in infancy, or it can be asymptomatic or with minimal symptoms until adulthood, where it often manifests itself during periods of stress. In addition to digestive problems, it can be a manifestation of reduced absorption of fats, fat-soluble vitamins and minerals, depression, eczema or impaired fertility.
The main genetic factors associated with the development of celiac disease are HLA class II molecules.
We offer testing for predisposing
HLA-DQ alleles (haplotypes DQ2.5, DQ8 and DQ2.2), which are present in more than 95% of people with celiac disease.
Who is the examination intended for?
Individuals with a positive family history
Patients with gastrointestinal complaints (malabsorption, diarrhea, abdominal pain, flatulence) of unclear etiology
Patients with other autoimmune diseases often associated with celiac disease
Patients with a clinical or gastroscopic picture suspicious for celiac disease
Report delivery date: 14 days
Price: 4 500 CZK
We offer an examination of genetically determined lactose intolerance. Lactose intolerance (inability to digest milk sugar) affects approximately one in five people in Europe, while in the Asian population the proportion of people who are lactose intolerant is up to 100 percent. Digestion of milk sugar (lactose) in children is ensured by the lactase enzyme encoded by the LCT gene and naturally produced by the cells of the small intestine during childhood. Lactase breaks down lactose into the simpler sugars glucose and galactose, which are subsequently absorbed by the wall of the small intestine and distributed to the body as a source of energy via the bloodstream. Normally, adult mammals experience a loss of lactase enzyme activity (lactase non-persistence) and thus a loss of the ability to digest lactose (so-called lactose intolerance ) in adulthood. In a person in such a case, there is typically a gradual reduction of lactase activity from the age of about 2-3 years until its complete disappearance, typically at the age of 5-10 years. However, in the human population, the so-called lactase persistenceemstrong, i.e. the persistence of lactase enzyme activity into adulthood leading to lactose tolerance in adulthood, evolved as a compensatory mechanism for milk intake in the context of cattle breeding about 10 000 years ago. Genetically, this lactase persistence is conditioned by a dominant variant affecting the LCT gene. The presence of a polymorphism in the LCT gene results in persistent activity of the lactase enzyme in adulthood and thus lactose tolerance. Conversely, the absence of these variants in the LCT gene leads to a natural loss of activity of the encoded enzyme and a loss of the ability to digest lactate in adulthood. As a result, undigested lactose accumulates in the intestine and is broken down by the bacteria present. This results in gastrointestinal symptoms including diarrhea, abdominal discomfort, stomach cramps, or flatulence. Non-specific extraintestinal symptoms such as headaches, muscle and joint pain, fatigue, dizziness, concentration disorders, cardiac arrhythmia, etc. are no exception.
In the European population, 2 variants in the regulatory region of the LCT gene are mainly responsible for lactase persistence, namely LCT-13910-C/T and LCT-22018-G/A. In the case of the presence of a normal allele in the homozygous state LCT-13910-C/C or LCT-22018-G/G (both so-called wild type), the activity of the lactase gene is many times lower in adulthood, which leads to lactase non-persistence and manifestations of lactose intolerance . The homozygous haplotype LCT-13910-T/T or LCT-22018-A/A (both variants) is, on the other hand, associated with lactase persistence and thus lactose tolerance. Heterozygotes, i.e. people carrying both alleles of the tested gene, i.e. LCT-13910-C/T or LCT-22018-G/A, usually do not show symptoms of lactose intolerance, but may develop mild transient symptoms under certain conditions, e.g. during periods of increased load, stress or intestinal infection.
We offer the examination of both variants of the LCT gene, dominant in the European population, i.e. LCT-13910-C/T and LCT-G22018-G/A.
Who is the examination intended for?
All clients with non-specific digestive symptoms: unexplained diarrhea, nausea, stomach cramps, flatulence
Clients with otherwise unexplained non-specific extraintestinal symptoms: headaches and dizziness, difficulty concentrating
and memory problems, excessive fatigue, muscle and joint pain, cardiac arrhythmias
Report delivery date: 28 days / STATIM 7 days
Price: 2 200 CZK / STATIM 3 200 CZK
We offer an examination of genetically determined fructose intoeneticlerance. Hereditary fructose intolerance (HFI) is a severe disorder of fructose, sucrose and sorbitol metabolism. The disease is caused by a congenital deficiency of the enzyme aldolase B (ALDOB) occurring mainly in the liver, small intestine and renal cortex and involved in the metabolism of exogenous fructose and related sugars. Manifestations of fructose metabolism disorders include vomiting, nausea, diarrhea, failure to grow and thrive, and metabolic disturbances (hypoglycemia, hyperuricemia, hypomagnesemia, or lactic acidosis). Manifestations occur when children transition from breast milk to food containing fructose and sucrose, and their severity can lead to a life-threatening condition following fructose intake. Persistent intake can eventually result in severe liver and kidney failure, resulting in death. However, patients very often develop a natural resistance to foods containing fructose and related sugars, which often leads to the suppression of disease manifestations and insufficient diagnosis. At the same time, early diagnosis is important from the point of view of preventing possible organ damage and determining the correct treatment. Fructose intolerance affects approximately 1 person in 10,000 to 100,000. In Central Europe, the incidence is reported to be 1:26,000. From this, the frequency of carriers is estimated to be 1:55 to 1:120.
Genetically, it is an autosomal recessive disease caused by a pathogenic mutation of the ALDOB gene, which encodes the enzyme aldolase B. Among the most frequently occurring and dominant in the European population, the mutated alleles of the ALDOB gene include the A149P, A174D, N334K and del4E4 deletions. In the case of the presence of a normal allele in the homozygous state (so-called wild type), aldolase B activity is preserved and fructose intolerance can be ruled out. The mutant haplotype in the homozygous state results in insufficient aldolase B activity and thus a disorder in fructose metabolism. The diagnosis of fructose intolerance is confirmed. Heterozygotes, i.e. people carrying both alleles of the tested gene, normal and mutant, do not show signs of fructose intolerance, as the normal allele produces a sufficient amount of aldolase B to ensure normal fructose metabolism. However, they can transmit the mutant allele to subsequent generations, so they are carriers of the disease.
We offer an examination of all four dominant variants of the ALDOB gene in the European population – the A149P, A174D, N334K alleles and the del4E4 deletion.
Who is the examination intended for?
All clients with non-specific digestive symptoms: vomiting, nausea, diarrhea
In the presence of otherwise unexplained metabolic disorders – hypoglycaemia, hyperuricaemia, hypomagnesaemia or lactic acidosis
In hepatic or renal failure in children and adults of unclear cause
Others with manifestations of intolerance following ingestion of fructose and related sugars
With a positive fructose tolerance test
Report delivery date: 28 days / STATIM 7 days
Price: 3 500 CZK/ STATIM 5 000 CZK
We offer genetic testing for alpha-1-antitrypsin (A1AT) deficiency predisposing to a number of diseases, most often pulmonary emphysema (emphysema), possibly bronchiectasis, chronic hepatitis, cirrhosis of the liver, liver cancer, panniculitis (inflammation of subcutaneous fatty tissue) and vasculitis associated with c – ANCA. The onset of pulmonary emphysema can usually be noted no earlier than in the third decade of life, liver damage, on the other hand, manifests itself at any age. A1AT deficiency is currently the most common hereditary cause of liver transplantation in children. The A1AT protein belongs to the group of serine protease inhibitors (so-called SERPINS). It is an enzyme produced in the liver, which is then distributed through the bloodstream to the lungs, where it inhibits neutrophil elastase. When mutations occur in the A1AT gene, there is a decrease in the concentration of A1AT in the serum or a change in the structure of the protein and the inability to perform an inhibitory function in the lungs. Elastase can then uncontrollably split elastic fibers with the consequence of damage to lung tissue and the development of lung disease.
The most common pathogenic A1AT variants described in patients include the PI*S variant and the PI*Z variant. Patients with the PI*S variant in a homozygous state (both chromosomes carry the pathogenic PI*S variant) have a 20-30% lower A1AT level, however, the present concentration of A1AT in the serum is sufficient to prevent the manifestation of the disease. When the Pi*Z allele is present in the homozygous state, there is conformational instability and polymerization of A1AT, which accumulates in hepatocytes. The consequence is a significant decrease in the serum concentration of A1AT, which is not available to inhibit elastase in the lungs, and proteolytic damage to the lower airways occurs, which can ultimately result in the development of chronic obstructive pulmonary disease (COPD). The accumulation of polymerized A1AT in hepatocytes leads to liver damage, which can even result in liver cirrhosis. Individuals carrying a combination of the PI*S variant and the PI*Z variant may have an increased risk of developing lung disease, especially in conjunction with risk factors such as smoking, living in a dusty environment or repeated respiratory tract infections. Individuals carrying one copy of the PI*S variant or one copy of the PI*Z variant in combination with the normal PI*M variant make less A1AT, but usually enough to protect the organism, however they can transmit the pathogenic variant to the next generation.
In the European population, the disease due to A1AT deficiency affects 1:1,500–3,500 individuals. However, the clinical problems are not specific for the diagnosis of A1AT deficiency, and patients often remain undiagnosed, or are given a different diagnosis (e.g. bronchial asthma). Genetic examination is important from the point of view of early and correct diagnosis, initiation of treatment and prevention of risky behavior in carriers of risk variants.
We offer examination of the two most frequently occurring pathogenic variants of A1AT: the PI*Z variant and the PI*S variant
Who is the examination intended for?
People with symptoms of shortness of breath, chronic cough, bronchitis and other signs of emphysema
COPD patients under 65 years of age or without exposure to risk factors, more broadly all COPD patients
Patients with bronchiectasis of undetermined aetiology
Individuals with manifestations of otherwise unexplained liver disease
Newborns with icterus that persists 1-2 weeks after birth
Individuals with decreased serum A1AT levels
Relatives of individuals with any of the diseases listed above or diagnosed A1AT deficiency
Report delivery date: 28 days / STATIM 7 days
Price: 2 200 CZK / STATIM 3 200 CZK
We offer genetic testing for the gene for apolipoprotein B100 (APOB100) associated with the development of familial hypercholesterolemia. The gene for apolipoprotein B (APOB) encodes 2 forms of apolipoprotein B, the shorter apolipoprotein B48 (APOB48) and the longer apolipoprotein B100. Both variants form the basic protein component of lipoproteins, which are particles that play an important role in the transport of fats and cholesterol in the blood. APOB48 is formed in the intestines, where it plays a role in the transport of dietary fats from the intestine to the liver. APOB100 is synthesized in the liver and is a building block of low-, intermediate-, and very-low-density lipoproteins (LDL, IDL, VLDL), with LDL being the main carriers of cholesterol in the blood. APOB100 binds to LDL receptors in lipoprotein particles and thus enables the transport of cholesterol into cells. Cholesterol is then used in the cells, stored or excreted from the body. APOB100 thus plays a key role in maintaining proper levels of
cholesterol in the cells and in the blood. A mutation in the APOB gene causes a change in the structure of the protein at the receptor binding site. This results in a lower affinity of LDL particles for receptors on the cell surface and an accumulation of LDL in the blood. Increased levels of LDLin the blood cause it to be deposited in the walls of arteries, forming fatty deposits that harden and scar the vessel wall, causing atherosclerotic change in the vessel and significantly increasing the risk of myocardial infarction.
A genetic disorder leading to a mutation in the APOB gene is one of the causes of familial hypercholesterolemia. The most common pathogenic APOB variant is the 3500Q allele. Although the frequency of the mutated allele is only 0.1% in the healthy population, its frequency is up to 10% in individuals with familial hypercholesterolemia. The most common form of familial hypercholesterolemia due to an APOB mutation is the presence of a mutation in one copy of the gene (the so-called heterozygous state). The heterozygous form occurs with a frequency of 1:500–700. Clinical manifestations of atherosclerosis begin after the age of 30. The condition is associated with an increased risk of early-onset cardiovascular disease due to elevated cholesterol levels and affects individuals in the fourth to fifth decade of life. If familial hypercholesterolemia is not identified and appropriately treated at an early age, men have a 50% risk of fatal or non-fatal coronary events by age 50, and women have a 30% risk of the same by age 60. V In case of damage to both alleles of the APOB gene, the so-called homozygous state, a severe form of hypercholesterolemia occurs with the manifestation of the disease already in childhood.
Genetic testing is important for: a) correct establishment of a definitive diagnosis; b) evidence of a pathogenic mutation potentially requires more aggressive lipid lowering due to higher cardiovascular risk; c) with genetically proven hypercholesterolemia, there is a higher probability of early initiation of treatment and the willingness of patients to comply with treatment measures; d) examination of relatives at risk can be offered. A consensus panel of experts (JACC Scientific Expert Panel) under the auspices of the American company Familial Hypercholesterolemia Foundation recommends that genetic testing for familial hypercholesterolemia become the standard of care for patients with definite or probable familial hypercholesterolemia and their relatives at risk.
We offer an examination of the pathogenic variant of the APOB gene R3500Q, which is the most widespread mutation of the APOB gene.
Who is the examination intended for?
Individuals with elevated cholesterol levels, especially if familial occurrence is suspected
Children with persistent high cholesterol without an obvious secondary cause
Individuals with a family history of premature cardiovascular disease
Relatives of carriers of the pathogenic variant APOB100
Report delivery date: 28 days / STATIM 7 days
Price: 950 CZK/ STATIM 1 950 CZK
We offer genetic testing for the apolipoprotein E (APOE) gene. Apolipoprotein E is an important component of high-, intermediate-, low-, and very-low-density lipoproteins (HDL, IDL, LDL, VLDL), particles that transport cholesterol. Apolipoprotein E is produced mainly in the brain and liver and serves as a ligand for LDL receptors and LDL receptor-related protein-1, through which it affects the uptake of LDL cholesterol by cells. Apolipoprotein E occurs in three isoforms: E2, E3, E4. These isoforms can thus occur in six combinations, so-called genotypes (homozygous genotypes: E2/E2, E3/E3 E4/E4 and heterozygous genotypes: E2/E3, E2/E4, E3/E4). V populaci je nejčastější alela E3, která se vyskytuje asi v 78 %, následovan á alelou E4 s cca 14 % a alelou E2 vyskytující se v cca 8 %.
The E3/E3 genotype is the most frequently occurring genotype a is considered standard, so-called neutral, in relation to the development of cardiovascular diseases and Alzheimer’s disease. The E2 isoform is considered protective for cardiovascular disease in the heterozygous state. Compared to the E3 and E4 isoforms, APOE2 has a significantly reduced affinity for lipoprotein receptors, which leads to lower APOE clearance, higher plasma APOE concentration, upregulation of liver LDL receptors, and thus a decrease in serum LDL concentration. This reduced affinity is further associated with increased plasma triglyceride concentration. Some individuals with the E2/E2 genotype may develop type III hyperlipoproteinemia (or familial dysbetalipoproteinemia), which is characterized by elevated serum cholesterol, triglycerides, and beta-VLDL, leading to atherosclerosis at a young age. Přítomnost alely E4je považována za rizikovou. Clearance alely E4 je mnohem účinnější, je spojena s nižší koncentrací APOE v séru a tím se zvýšenou hladinou LDL v krvi, jejímž následkem jsou aterosklerotické změny cév a významně se zvyšuje riziko infarktu myokardu a cévní mozkové příhody. The presence of the E4 allele is further considered to be a major genetic determinant of the development of late-onset Alzheimer’s disease. Cholesterol in brain tissue is crucial for the formation and maintenance of synaptic connections between neurons, and APOE is involved in synaptic plasticity. If lipid homeostasis is disturbed, synapses degenerate, which significantly contributes to neurodegenerative changes. The E4 allele has the lowest affinity for amyloid, which leads to its less efficient removal and probably leads to the excessive deposition of protein clusters, so-called amyloid plaques, in brain tissue, which leads to the death of neurons and the progression of neurodegenerative disease symptoms. Carriers of the APOE4 allele develop the disease more often, at a younger age, and may have a more rapid course. Individuals carrying one E4 allele in the genotype have an increased risk (approx. 3–5x), but less significantly than individuals carrying the E4/E4 genotype (risk increased up to 15x). Kromě rizika Alzheimerovy choroby je přítomnost alely E4 rovněž popisována v souvislosti s dalším neurodegenerativním onemocněním – demencí s Lewyho tělísky, charakterizovanou poklesem intelektu, halucinacemi, náhlými změnami nálady a pozornosti, a pohybovými poruchami podobnými Parkinsonově nemoci. Carriers of the E4 allele apparently experience a malfunction in the transport of the alpha-synuclein protein into and out of cells, which then accumulates in the brain tissue forming clusters, so-called Lewy bodies. Their accumulation subsequently leads to the death of nerve cells and the development of neurological symptoms of the disease.
We offer a genetic examination of all 3 occurring isoforms of apolipoprotein E: E2, E3, E4 and determination of the relevant genotype.
Who is the examination intended for?
Individuals with elevated cholesterol or triacylglycerol levels, especially if familial occurrence is suspected
Children with persistently high cholesterol levels with no apparent secondary cause
Individuals with a family history of premature cardiovascular disease
Individuals with progression of cognitive dysfunction, dementia with suspected Alzheimer’s disease
Relatives of carriers of a pathogenic variant of APOE
Report delivery date: 28 days / STATIM 7 days
Price: 2 200 CZK / STATIM 3 200 CZK
Gilbert syndrome is hereditary chronic hyperbilirubinemia without evidence of other liver dysfunction or hemolysis.
The disease is characterized by a small increase in unconjugated bilirubin in the serum without the presence of bilirubin in the urine. The incidence of the disease is roughly 3-15% of the population, men are affected more often than women (in a ratio of 4:1). The disease is often diagnosed in adolescence (most often in patients aged 15–30 years) and subsequently manifests itself throughout life. In most cases, patients are clinically completely free of problems, rarely non-specific digestive problems, mild jaundice, weakness or problems with concentration may appear. The liver parenchyma is free of macroscopic and microscopic changes.
This disease does not require special treatment, it is a benign disease with an excellent prognosis, a light liver diet can be recommended. A correct and quick diagnosis of the disease leads to a reduction in the burden on the patient and the healthcare system with repeated examinations and reduces the clients’ fears of serious liver disease. However, patients should consult their doctor about the use of medicines. Some medicines cause a further increase in the concentration of bilirubin in the blood. These include, for example, Atazanavir and Indinavir used to treat HIV, Gemfibrozil and statins to lower cholesterol levels, chemotherapy drugs Irinotecan and Nilotinib. A high risk of serious toxic effects (diarrhea, hematological toxicity) has been described. It is recommended to examine these patients before starting treatment.
The molecular basis of the disease is the insertion of two TA nucleotides into the promoter region of the UGT1A1 gene. The normal allele contains 6 TA sequences, in the case of the mutated allele, the number of TA sequences increases to 7 after insertion. As a result of the aforementioned insertion, the activity of the UDP-glucuronosyltransferase enzyme encoded by the UGT1A1 gene decreases.
In addition to careful patient history, physical examination and laboratory blood tests, the diagnosis relies on molecular genetic testing of the UGT1A1 gene promoter. Gilbert syndrome patients have 7 TA repeats on both alleles, carriers have one allele with 6 TA repeats and the other allele with 7 TA repeats. The specificity of molecular genetic testing for confirming the diagnosis of Gilbert’s syndrome is high.
Who is the examination intended for?
To confirm a diagnosis of Gilbert’s syndrome
Prediction of toxicity of selected drugs (Irinotecan, Nilotinib, Gemfibrozil, statins, Atazanavir, Indinavir)
Positive family history
Clarification of the cause of hyperbilirubinemia
Report delivery time: 14 days
Price: 2 000 CZK
Hereditary (congenital, hereditary) haemochromatosis astrong is a hereditary disease characterised by increased iron absorption in the small intestine and its subsequent deposition mainly in the liver, but also in the myocardium, pancreas, spleen, pituitary gland, joints, skin and other organs. Excessive accumulation of iron in the liver has an impact on a cascade of events that can result in liver fibrosis or lead to the development of hepatocellular carcinoma. Prolonged and excessive accumulation of excess iron in other tissues and organs also leads to their subsequent damage.
HH is one of the persistent diseases. Iron accumulation occurs gradually and lifelong. The first manifestations of the disease manifest themselves between 40 and 50 years of age. Clinical symptoms of the disease are not specific; fatigue, hepatomegaly, muscle and joint pain occur, and as the disease progresses and the iron concentration in the organs increases, cardiac arrhythmias, liver fibrosis or cirrhosis, diabetes, cardiomyopathy, adrenal insufficiency, hypogonadism and hepatocellular carcinoma also occur. The disease is often associated with other comorbidities, which can make diagnosis difficult and, together with nonspecific manifestations, is the cause of significant underdiagnosis of HH disease.
The prevalence of HH in Europe is 1 in 200-500, which makes HH one of the most common genetic diseases. The most common form of haemochromatosis, subtype HH1, is caused by mutations in the HFE gene, HFE-associated haemochromatosis. The most frequent cause of HH1 in the Caucasian population is the C282Y variant (80-85% of HH). The frequency of heterozygous C282Y carriers in the Caucasian population is estimated at 8-12%. However, the variant is not fully penetrant and only a proportion of homozygotes (1-50%) develop the disease. The second most common variant in the HFE gene is H63D (10-20%) and the third frequently detected variant responsible for HH1 is S65C (0.5-3%). HH1 is an autosomal recessive disease, i.e. the presence of two mutated alleles of the HFE gene is required for the disease to manifest, most often homozygotes for one type of mutation, less frequently (about 2-6%) compound heterozygotes carrying a combination of two variants in the HFE gene. Homozygous carriers of C282Y are considered to be at the highest risk for HH, while heterozygotes for C282Y are rarely affected; rather, it appears that the presence of the C282Y variant may accelerate organ damage of other primary etiologies. Homozygotes for H63D and mixed heterozygotes C282Y/H63D or C282Y/S65C tend to have milder HH symptoms.
Currently, the diagnosis of HH is based on clinical examination, physical and biochemical analysis, including in particular determination of transferrin saturation, determination of ferritin, serum iron and iron concentration in liver tissue. Molecular genetic analysis is an integral part of the diagnosis, as a means of establishing a differential diagnosis and also finding other at-risk individuals in the family. Establishing a correct and early diagnosis is crucial, as non-specific manifestations of HH can easily be missed and HH remains untreated in the long term. In untreated HH, irreversible organ damage occurs due to excessive iron accumulation. With early treatment, the prognosis is excellent.
We offer testing of all three variants in the HFE gene, which are the most common cause of HH in the Caucasian population: C282Y, H63D, S65C.
Who is the examination intended for?
Anyone with suspected HH
Individuals with symptoms of iron accumulation – fibrosis to cirrhosis of the liver, cardiomyopathy, pancreatitis,
diabetes, arthropathy, skin pigmentation
Individuals with abnormal liver tests or early onset type 1 diabetes
Individuals with a family history of liver disease
Individuals with a variant in the HFE gene in the family
Report delivery date: 14 days
Price: 3 900 CZK
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
Who is the examination intended for?
All clients for confirmation/examination of known previously proven variant in the anamnesis
Report delivery date: on request (depends on the test methodology used)
Price: on request (depends on the test methodology used)
If indicated, other genetic tests may be offered.
Examinations are covered by public health insurance. For uninsured clients, we can offer examinations in a self-pay mode.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
Examination of hereditary predispositions to cancer in the CZECANCA shared design
Most cancers are sporadic and arise randomly as a result of a combination of many different factors through the gradual accumulation of acquired changes in genetic information. A small percentage (usually between 5% and 10%) of cancer patients develop the disease as a result of an inherited genetic predisposition that increases the risk of developing malignant disease. Hereditary cancers represent a small but clinically important group of malignancies because malignant tumours occur earlier, more frequently, in combination or recurrently and with a higher probability than in individuals without a hereditary genetic predisposition. Given the overall incidence of cancer in the Czech Republic, there are several thousand high-risk patients per year. Translated with DeepL.com (free version)
There are hundreds of genes whose inherited variants have been shown to increase the risk of cancer. Therefore, we offer a comprehensive investigation of hereditary cancer predispositions in the CZECANCA (CZEch CAncer paNel for Clinical Application) design. It is a panel including all major predisposition genes, which was designed with specific variants in the Czech patient population in mind.
The CZECANCA panel investigates genes with known predisposition to hereditary cancers of the breast, ovary, colorectum, pancreas, stomach, endometrium, kidney, prostate, skin, and other genes involved in DNA repair, where an association with cancer predisposition is suspected. In total, the coding regions and adjacent intron-exon regions of 226 genes are examined using NGS* technology. The analysis of a higher number of genes in a single test allows a comprehensive picture of tumour predisposing genes across different cancer diagnoses (i.e. not only the typical units of hereditary breast and ovarian cancer and colorectal cancer) to be captured, thus enabling the discovery of the genetic cause of malignant disease in a higher number of cancer patients, where the identification of the causative mutation is a prerequisite for an effective treatment strategy. The examination also allows us to further search for still healthy carriers of risk variants, who can then be offered adequate preventive cancer care. Due to its comprehensiveness, the CZECANCA panel analysis allows testing the genetic predisposition to cancer in all the most common cancer predisposition syndromes.
List of investigated genes in the CZECANCA panel*:
AIP; ALK; APC; APEX1; ATM; ATMIN; ATR; ATRIP; AURKA; AXIN1; BABAM1; BAP1; BARD1; BLM; BMPR1A; BRAP; BRCA1; BRCA2; BRCC3; BRE; BRIP1; BUB1B; C11orf30; C19orf40; casp8; CCND1; CDC73; CDH1; CDK4; CDKN1B; CDKN1C; CDKN2A; CEBPA; CEP57; CLSPN; CSNK1D; CSNK1E; CWF19L2; CYLD; DCLRE1C; DDB2; DHFR; DICER1; DIS3L2; DMBT1; DMC1; DNAJC21; DPYD; EGFR; EPCAM; EPHX1; ERCC1; ERCC2; ERCC3; ERCC4; ERCC5; ERCC6; ESR1; ESR2; EXO1; EXT1; EXT2; EYA2; EZH2; FAM175A; FAM175B; FAN1; FANCA; FANCB; FANCC; FANCD2; FANCE; FANCF; FANCG; FANCI; FANCL; FANCM; FBXW7; FH; FLCN; GADD45A; GATA2; GPC3; GRB7; HELQ; HNF1A; HOXB13; HRAS; HUS1; CHEK1; CHEK2; KAT5; KCNJ5; KIT; LIG1; LIG3; LIG4; LMO1; LRIG1; MAX; MCPH1; MDC1; MDM2; MDM4; MEN1; MET; MGMT; MLH1; MLH3; MMP8; MPL; MRE11A; MSH2; MSH3; MSH5; MSH6; MSR1; MUS81; MUTYH; NAT1; NBN; NCAM1; NELFB; NF1; NF2; NFKBIZ; NHEJ1; NSD1; OGG1; PALB2; PARP1; PCNA; PHB; PHOX2B; PIK3CG; PLA2G2A; PMS1; PMS2; POLB; POLD1; POLE; PPM1D; PREX2; PRF1; PRKAR1A; PRKDC; PTEN; PTCH1; PTTG2; RAD1; RAD17; RAD18; RAD23B; RAD50; RAD51; RAD51AP1; RAD51B; RAD51C; RAD51D; RAD52; RAD54B; RAD54L; RAD9A; RB1; RBBP8; RECQL; RECQL4; RECQL5; RET; RFC1; RFC2; RFC4; RHBDF2; RNF146; RNF168; RNF8; RPA1; RUNX1; SBDS; SDHA; SDHAF2; SDHB; SDHC; SDHD; SETBP1; SETX; SHPRH; SLX4; SMAD4; SMARCA4; SMARCB1; SMARCE1; STK11; SUFU; TCL1A; TELO2; TERF2; TERT; TLR2; TLR4; TMEM127; TOPBP1; TP53; TP53BP1; TSC1; TSC2; TSHR; UBE2A; UBE2B; UBE2I; UBE2V2; UBE4B; UIMC1; VHL; WRN; WT1; XPA; XPC; XRCC1; XRCC2; XRCC3; XRCC4; XRCC5; XRCC6; ZNF350; ZNF365
*A list of genes and associated cancer predispositions can be provided on request.
Examination of the BRCA1 gene and selected regions of the ATM, TP53 and CHEK2 genes is complemented by MLPA – multiple ligation dependent probe amplification, which is aimed at detecting the presence of copy number changes in the range of one exon to the entire gene (i.e. deletion and duplication of a larger extent).
Who is the examination intended for?
Clients who were diagnosed with cancer at an unusually early age
Persons with multiple tumors of different origin
Persons with multiple tumors of the same origin (bilateral or multifocal)
Persons with bilateral occurrence of cancer in paired organs
Persons with a histological subtype of tumour typical of the genetic predisposition
Patients with cancer of the ovary and adjacent areas at any age
Patients with triple negative breast cancer at any age
Men with breast cancer at any age
Patients with exocrine pancreatic cancer at any age
Persons with a family history of recurrent malignant disease, especially when the disease manifests itself at an early age or in combination with certain types
Persons directly related to patients in the above-mentioned indications, unless the patient is alive
NOTE: Examination can be performed after the age of 18 years, rarely earlier (for syndromes with childhood onset)
Report delivery date: 3 months
Price: 39,600 CZK
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
Who is the examination intended for?
All clients for confirmation/examination of known previously proven variant in the anamnesis
Report delivery date: on request (depends on the test methodology used)
Price: on request (depends on the test methodology used)
If indicated, other genetic tests may be offered.
Examinations are covered by public health insurance. For uninsured clients, we can offer examinations in a self-pay mode.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
We offer examination of vision disorders caused by loss of function of the RPE65 (retinal pigment epithelium 65) gene.
Loss of RPE65 function is associated with progressive visual impairment that can lead to complete blindness. The disease occurs in three forms, the least favorable being Leber’s congenital amaurosis type 2, in which the quality of vision is already reduced at birth and gradually deteriorates to the stage of complete blindness already in young adulthood. Retinal dystrophy type 20 (also known as retinitis pigmentosa type 20) is a milder form of the disease that begins in preschool or younger school age. The third, mildest form of the disease is the so-called autosomal dominant form of the disease called retinitis pigmentosa 87 with involvement of the choroid. Some individuals with this form may not be affected at all, while others’ vision begins to deteriorate from young adulthood to middle age.
Currently, gene therapy is available for patients with visual impairment caused by loss of RPE65 function, which allows for a long-term reversal of the decrease in visual function. Therefore, it is essential for all gene therapy candidates to undergo genetic testing to confirm the presence of the pathogenic form of the RPE65 gene.
For the examination, we use the technology of massively parallel sequencing, or “next generation sequencing” (NGS), which makes it possible to very efficiently sequence and characterize a wide range of genes or gene regions responsible for or involved in genetically determined diseases.
Who is the examination intended for?
Patients with a progressive form of vision loss in whom loss of function of the RPE65 gene is suspected, or when considering the indication for gene therapy
Report delivery date: 3 months
Price: 27 500 CZK
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
Who is the examination intended for?
All clients for confirmation/examination of known previously proven variant in the anamnesis
Report delivery date: on request (depends on the test methodology used)
Price: on request (depends on the test methodology used)
If indicated, other genetic tests may be offered.
Examinations are covered by public health insurance. For uninsured clients, we can offer examinations in a self-pay mode.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by a defect in the SMN1 gene.
SMA is characterized by progressive symmetrical, especially proximal muscle weakness. Gradually, muscle hypotrophy to atrophy and contractures develop, and scoliosis is common. It is manifested by marked muscle hypotonia, limb hypo- to areflexia, tongue fasciculations and respiratory difficulties may occur. Without treatment, muscle weakness often leads to loss of the ability to walk independently, and in more severe forms to the development of respiratory insufficiency with the need for artificial pulmonary ventilation. Anamnestically, the clinical picture is dominated by loss of motor skills and delayed uprightness with normal mental development. The incidence of the disease is around 1/10,000 births. The estimated carrier frequency in European populations is 1/37 individuals. Previously a causally incurable disease, it is now newly treatable with gene therapy drugs. The time of initiation of treatment is crucial in patient prognosis, hence the acute need for early diagnosis.
A total of 95% of SMA patients have a homozygous deletion of exon 7 of the SMN1 gene. The remaining 5% of patients are heterozygotes carrying a deletion of exon 7 of the SMN1 gene on one chromosome and a small pathogenic sequence variant on the other.
The SMN1 gene and its nearly identical copy, the SMN2 gene, are located on chromosome 5q13.2. The SMN2 gene produces predominantly a transcript with an excised exon 7, the translation of which produces an unstable and non-functional protein. In addition to the transcript without exon 7, the SMN2 gene produces a small amount of full-length transcript and thus a small amount of functional SMN2 protein. Thus, patients with multiple copies of SMN2 have milder SMA phenotypes.
We offer copy number testing of exons 7 and 8 of the SMN1 gene to diagnose SMA or SMA carriage. The examination is based on the principle of MLPA (multiple ligation-dependent probe amplification) and is designed to detect deletions and duplications of selected regions. This kit can also be used to detect the copy number of exon 7 and 8 of the SMN2 gene, as interpretive aids in determining the copy number of the SMN1 gene.
Who is the examination intended for?
Patients with a suspected diagnosis of SMA
Clients with a positive family history
Gamete donors
Report delivery date: 14 days
Price: 7 500 CZK
The name Osteogenesis imperfecta (OI) refers to a group of genetically determined connective tissue diseases. It is an inherited connective tissue disorder with autosomal dominant or recessive transmission; cases of OI linked to the X chromosome have also been described. The incidence of OI ranges from 1/10,000 to 30,000 births. The clinical manifestation of the disease is quite varied, the common denominator being the low quality of collagen of the patients, which results in impaired orientation of hydroxyapatite crystals during mineralization of the newly formed bone tissue. Both the skeleton and other tissues that contain collagen are affected.
The most common causes of OI are dominant mutations (90%) in one of two genes, COL1A1 or COL1A2, which encode type I collagen chains. More than 1,300 different mutations have been identified in the COL1A1 and COL1A2 genes, located on chromosomes 7 and 17. The majority of dominant mutations are in COL1A1 and COL1A2, with a small proportion due to mutations in the IFITM5 gene. Among the recessive genes, mutations in genes whose products are involved in the modification of individual precursors of collagen I chains are the most frequently described: BMP1, CRTAP, FKBP10, KDELR2, P3H1, PPIB, SERPINH1, SPARC, TMEM38B or in genes whose mutations cause osteoblast dysfunction: CCDC134, CREB3L1, MESD, SERPINF1, SP7, TENT5A, WNT1. Very rare recessive forms of OI are linked to the X chromosome, e.g. mutations in the MBTPS2 gene.
The disease can take on different manifestations with significant individual variability, ranging from perinatal lethality to severe skeletal deformities to nearly asymptomatic individuals with a slightly increased predisposition to bone fragility. The most important manifestation of the disease is increased bone fragility. A vertebral compression fracture in a child or two long-bone fractures by the age of ten or three or more fractures throughout childhood during normal activities are signs of a decline in the mechanical resistance of the bone. Individuals with more severe forms of the disease tend to have a very small stature and a triangular facial shape. Infants tend to have large fontanelle sizes, which also close later. Some patients have so-called Wormian bones on the skull. Blue sclerae are typically associated with OI. They are darker and may have a grey or bluish tinge. The cornea is also thinned and myopia is more common. Approximately 50 % of patients have dentinogenesis imperfecta with dull transparent and fragile enamel. Repeated fractures lead to curvature of the long bones, and deformities of the chest and spine are also common. Children have loose ligaments, leading to hypermobility and instability of joints, hernias are more common and hematomas form easily. Mental development is not affected. The most common cardiovascular manifestation of OI is aortic root dilatation. In the third or fourth decade of life, and less frequently earlier, patients with OI are at risk of hearing loss. This is caused by structural disorders of the middle ear transmitting bones and sometimes by abnormalities in the inner ear. According to the clinical manifestations, mode of inheritance and radiological findings, several subtypes of OI are recognized (OI type I – IV).
If one parent has classical OI with autosomal dominant inheritance, the risk for each of his/her children is 50%. Parents of a child with autosomal recessive type of inheritance have a constant 25% risk of affecting the next offspring and a 50% risk of passing the defective allele to the next generation. The clinical manifestation of the disease is quite varied and the disease phenotype is not directly related to the genotype. Despite the identical mutation, the severity of clinical manifestations may vary considerably between family members. Thus, identification of the causative mutation cannot be used to estimate the prognosis of the disease. However, finding the causative mutation is crucial to confirm the correct diagnosis of OI and to exclude other causes of increased bone fragility. Furthermore, it is important in establishing the diagnosis in an asymptomatic parent of a sick child, finding healthy carriers of the recessive form of OI, and subsequently determining the risk in pregnancy and planning prenatal care.
We offer testing of COL1A1 and COL1A2 genes, encoding collagen I chains, supplemented by other genes whose variants are associated with OI:
BMP1, CCDC134, CREB3L1, CRTAP, FKBP10, IFITM5, KDELR2, MBTPS2, MESD, P3H1, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TENT5A, TMEM38B, WNT1.
We use massively parallel sequencing or “next generation sequencing” (NGS) technology to examine genes, which allows us to very efficiently sequence and characterize a broad spectrum of genes or regions of genes responsible for or involved in genetic diseases. The test is designed to detect clinically relevant sequence variants responsible for autosomal dominant OI, but now also to detect the genetic cause of most rare autosomal recessive or X-linked forms of OI caused by variants in the genes mentioned above.
In addition, the analysis of COL1A1 and COL1A2 genes is complemented by multiple ligation-dependent probe amplification (MLPA) to detect larger deletions and duplications that cannot be captured by sequencing.
Who is the examination intended for?
Clients with suspected Osteogenesis imperfecta
Clients with a positive family history
Report delivery date: 3 months
Price: 27 500 CZK
Achondroplasia, hypochondroplasia and thanatophoric dysplasia are among the most common forms of bone dysplasias, which are bone growth disorders. These are autosomal dominant diseases resulting from a defect in genetic information that interferes with proper bone development. It is most often the result of a pathogenic variant in the gene encoding the fibroblast growth factor receptor (FGFR3).
Pathogenic variants in the FGFR3 gene are responsible for increased cell signalling mediated by the fibroblast growth factor receptor in chondrocytes and maturing osteoblasts (cartilage and bone cells). Increased signaling then ultimately results in a suspension of proliferation and maturation of chondrocyte growth cartilage, a reduction in cartilage size, a reduction in trabecular bone volume, and a decrease in bone lengthening. As a consequence, various forms of bone dysplasias and craniosynostoses occur.
Achondroplasia is one of the most common forms of dysproportional dwarfism, called dwarfism. In 80% of cases, the disease is caused by a newly developed mutation in the FGFR3 gene. Increasing paternal age plays an important role in the development of mutations. The disease is characterized by significant morphological changes- shortening of long bones, macrocephaly, bulging forehead, hypoplasia of the midface with saddle-shaped nasal root, pronounced lumbar lordosis together with thoracic kyphosis. The intellect is not affected. Hypochondroplasia is a milder form of the disease with variable penetrance. There is shortening of the long bones, the morphology of the skull is less affected, facial features are usually normal, macrocephaly may be present, as well as intellectual deficiency or epilepsy. Thanatophoric dysplasia is a lethal form of the disease with marked shortening of the long bones, narrow chest with shortened ribs, macrocephaly and facial dysmorphism. A trefoil-shaped head is usually present. Translated with DeepL.com (free version)
Pathogenic variants of FGFR3 gene responsible for achondroplasia, hypochondroplasia, thanatophoric dysplasia are mainly concentrated in exons 7, 10, 13, 15 and 19. Only in rare cases do pathogenic variants occur in other regions of the FGFR3 coding sequence or in other genes. We offer the examination of the entire coding sequence of exons 7, 10, 13, 15 and 19 by Sanger sequencing.
Who is the examination intended for?
To confirm the diagnosis in children and adults with disproportionately small stature
Prenatally in fetuses where at least one parent has achondro/hypochondroplasia
Prenatally in fetuses where achondroplasia has been diagnosed in a previous pregnancy
Prenatally in fetuses for ultrasound findings suspicious for any form of bone dysplasia
To parents of children with hypochondroplasia
In fetuses after termination of pregnancy for suspected thanatophoric dysplasia
Report delivery date: 14 days
Price:
achondroplasia + hypochondroplasia: 7 500 CZK
thanatophoric dysplasia: 10 000 CZK
achondroplasia + hypochondroplasia + thanatophoric dysplasia: 12 500 CZK
We offer examination of the HLA-B27 allele associated with Bechterev’s disease and axial spondyloarthritis.
Spondylarthritis are inflammatory diseases of the musculoskeletal system of autoimmune origin in which chronic inflammatory changes occur in the joints of the spine and extremities. Ankylosing spondylitis (Bechterew’s disease) is a chronic inflammatory disease of the spine leading to reduced mobility and accompanied by significant pain. Bechterew’s disease affects men three times more often and usually starts at a young age (late adolescence to early adulthood). The average age at diagnosis is between 25 and 30 years. It is most often manifested by so-called inflammatory back pain, often at the sacroiliac joint, with pain occurring at rest and easing with physical activity, in contrast to the more common so-called degenerative back pain. The course is chronic, with progressive destruction of the intervertebral joints with osseous processes and corresponding loss of spinal mobility, the so-called bamboo spine ankylosis. In addition to spinal involvement, inflammation of peripheral joints is common- most commonly the hip, knee or shoulder joints. Tendonitis or inflammation of the iris and ciliary body of the eye are common. Chest pain, chronic severe fatigue or onycholysis may occur. The development of the disease is gradual and, due to the creeping onset of the disease, it usually takes several years from the first symptoms to diagnosis.
Although the diagnosis of the disease is not easy and is usually based on clinical picture and radiological findings, including magnetic resonance imaging (MRI), earlier diagnosis is desirable, especially due to the improving treatment options, especially with biologic agents (e.g. TNFα inhibitors), which are most effective at the beginning of the disease, before irreversible joint damage occurs. Of laboratory investigation, the genotyping of the class I histocompatibility complex B gene, specifically the HLA-B27 form (allele), which is present in more than 90% of cases of Bechterew’s disease and approximately 70% of cases of axial spondylarthritis, is of clear importance. The presence of the antigen does not necessarily mean that the disease will develop. However, persons with proven HLA-B27 are up to 300 times more likely to develop the disease. The determination of HLA-B27, together with the demonstration of sacroiliitis on MRI, is of greatest importance in the algorithm of early diagnosis, before the development of radiologically detectable changes.
We offer testing for the presence of the B-27 allele, which can be recommended in any patient with suspected axial spondylarthritis, especially Bechterew’s disease.
Who is the examination intended for?
Patients with a positive family history
Patients with lower back pain lasting at least 3 months, improving with exercise
Patients with limitation of mobility of the lumbar spine in the sagittal and frontal planes
Patients with non-infectious anterior chamber uveitis
Patients with rheumatic disease
Report delivery date: 14 days
Price: 2 000 CZK
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
Who is the examination intended for?
All clients for confirmation/examination of known previously proven variant in the anamnesis
Report delivery date: on request (depends on the test methodology used)
Price: on request (depends on the test methodology used)
If indicated, other genetic tests may be offered.
Examinations are covered by public health insurance. For uninsured clients, we can offer examinations in a self-pay mode.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
We offer an examination of the 50 most common mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, supplemented by the detection of extensive deletions and duplications of the CFTR gene.
Cystic fibrosis is an inherited disease with a grave prognosis. It ranks among the most common autosomal recessive hereditary diseases, the incidence in the Czech Republic is 1/4,500, while every 26th individual is a carrier of a mutation in the CFTR gene. Cystic fibrosis is a disease that is manifested by the formation of very thick mucus in the respiratory and digestive system. As a result, patients with cystic fibrosis suffer from persistent breathing difficulties, recurrent and chronic respiratory tract infections, digestive problems and general failure of the organism. Males experience infertility with azoospermia as a result of CBAVD (Congenital Bilateral Aplasia of Vas Deferens = they do not have a vas deferens), affected women also have significantly reduced fertility. Very salty sweat may be noted in young children (“salty children”).
The cause of the disease is a mutation in the CFTR gene located on chromosome number 7. The severity of the disease depends on the specific mutation of the CFTR gene, in exceptional cases the disease may not be clinically significant. Early diagnosis of this disease, i.e. within two months of birth, will significantly affect the treatment and related prognosis of the disease.
The examination of the 50 most common mutations of the CFTR gene that we offer covers approximately 92% of all mutations of the CFTR gene in the Czech population. In addition, in the laboratory GENvia, s.r.o. as standard, we supplement the examination with the detection of CFTR gene rearrangements using MLPA (multiple ligation-dependent probe amplification) technology, which captures large-scale deletions (losses) and duplications (doubling) of selected areas of the CFTR gene.
Who is the examination intended for?
Patients with persistent cough, frequent sinus and airway infections
Children who are not sleeping
Newborns with a history of intestinal obstruction and marked salty sweat
Couples with fertility disorders
Partners of a mutation carrier before or during a planned pregnancy
Prenatal testing in couples where both partners are CFTR mutation carriers
Prenatal diagnosis in fetuses with ultrasound findings suspicious for cystic fibrosis
Gamete donors to exclude carrier status
Report delivery date: 14 days
Price: 9 500 CZK
The examination is aimed at detecting a microdeletion (missing a small part) of the Y chromosome in the AZF region, which is often associated with male infertility.
The frequency of microdeletion in the AZF region is estimated to be 1/10,000 male births. The AZF region is divided into three subregions designated AZFa, AZFb and AZFc. Genes found in this region are involved in the process of spermatogenesis and are essential for male reproduction. Individual subregions are associated with a certain phase of spermatogenesis. If a microdeletion occurs in the AZFb and AZFc subregions, its phenotypic expression varies from azoospermia to oligozoospermia. Microdeletions in the AZFa subregion are characterized in most cases by the complete absence of spermatogonia (Sertoli cell-only syndrome), which manifests itself as azoospermia in the ejaculate.
Who is the examination intended for?
Males with impaired fertility with severe oligozoospermia or azoospermia
Report delivery date: 14 days
Price: 4 000 CZK
We offer testing for genes that are associated with some congenital sex-determination disorders, including androgen insensitivity syndrome and cryptorchidism.
For the examination, we use the technology of massively parallel sequencing, or “next generation sequencing” (NGS), which makes it possible to very efficiently sequence and characterize a wide range of genes or gene regions responsible for or involved in genetically determined diseases. The panel is designed for the examination of disorders of sex development and the differential diagnosis of cryptorchidism caused by point variants in the coding regions of associated genes.
For other disorders of sex development, an examination using arrayCGH, which we also perform, can be recommended, thereby ensuring the examination of disorders associated with numerical changes in responsible areas (“copy number variants”, CNV).
We diagnose variants in the following 10 genes: AR, INSL3, INSL3R, SRY, SOX9, DHH, NR5A1, MAP3K1, ZFPM2 and NR2F2
Who is the examination intended for?
Clients with congenital disorders of sex development, including androgen insensitivity syndrome and cryptorchidism
Report delivery date: 3 months
Price: 27 500 CZK
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
Who is the examination intended for?
All clients for confirmation/examination of known previously proven variant in the anamnesis
Report delivery date: on request (depends on the test methodology used)
Price: on request (depends on the test methodology used)
If indicated, other genetic tests may be offered.
Examinations are covered by public health insurance. For uninsured clients, we can offer examinations in a self-pay mode.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
Material for examination:
Amniotic fluid, fetal blood, chorionic tissue, aborted tissue, peripheral blood. The sample is taken by a healthcare worker or a specialist doctor after consulting the client with a clinical geneticist. Samples can be processed without the need for cell culture or cultured.
Description of examination:
Fluorescence in situ hybridization (FISH) is a molecular cytogenetic method that uses fluorescently labeled probes to hybridize to selected sections of the chromosomes under investigation. These probes can then be visualized in the form of light signals in a fluorescence microscope. The presence/absence of the monitored signal or of the chromosomal locus is expressed as a percentage.
The FISH method can be used for rapid detection of chromosomal aneuploidy (numerical deviations of entire chromosomes) or for targeted detection of deletion or duplication of a part of a chromosome, including difficult-to-detect microdeletions/microduplications. Often, FISH is indicated as a supplement to a basic cytogenetic examination (karyotype examination) or molecular genetic examination (aminoPCR, aCGH), to verify, specify or supplement the findings. However, the method is most often used to identify mosaic forms of various syndromes, such as Turner syndrome (45,X) in women or Klinefelter syndrome (47,XXY) in men, when the aberration is not present in all the cells of the examined person, but only in some.
Currently, there are approximately 15-20% of infertile couples in the population. In part of them (5–13%), infertility is caused by chromosomal aberrations, most often numerical deviations of sex chromosomes (gonosomes). Gonosome mosaicism and its degree are then related to fertility disorders.
FISH examination is performed on both metaphase (dividing) and interphase (non-dividing) cells. The result always refers only to the specific examined area, which is covered by the probes used, and does not provide a comprehensive view of the individual’s karyotype, as is the case with a karyotype examination.
Who is the examination intended for?
Clients who can be targeted for a specific syndrome or chromosomal aberration.
In addition, testing may be indicated for clients who need to verify, refine or complement existing testing (karyotype testing, amnioPCR, aCGH). In particular, findings of balanced and unbalanced chromosome aberrations, chromosome markers and mosaicism.
If gonosomal mosaicism is suspected, testing may be offered to clients with fertility disorders as part of preconception care.
Report delivery date: 7-28 days
Price for FISH examination with 1 marked probe: 8 500 CZK
Price for each additional probe: 1 500 CZK
Material for examination:
The examination is performed from short-term (48 hours) cultured peripheral blood lymphocytes. Peripheral blood sampling is performed by a healthcare professional after consulting the client with a clinical geneticist.
Description of examination:
The examination of acquired chromosome aberrations (ZCA) from peripheral blood is a genotoxicological method that monitors the occurrence of specific chromosome aberrations in clients who are exposed to harmful genotoxic (clastogenic) substances.
Genotoxic substances have a mutagenic and carcinogenic effect and are of physical, chemical or biological origin. In practice, this mainly concerns professional exposure to chemical substances or radiation, the state after medical therapy (ionizing radiation, cytostatics, immunosuppressants) or experiencing a viral infection. The degree of damage to the genetic material (chromosomes) is proportional to the level of risk of the mentioned processes and is expressed as a percentage.
The finding of an increased number of ZCA, confirmed by a repeated examination after a specified time interval, means for the client an increased risk of developing cancer and possibly increased risk of congenital developmental defects in offspring.
Who is the examination intended for?
Clients who can be traced to:
Occupational exposure to clastogenic substances
Suspected presence of a disease with increased chromosome breakage (diseases with congenital chromosome instability)
Undergoing treatment for cancer
Report delivery date: 28 days
Price: 5 000 CZK
Diagnostic (confirmatory) genetic tests are performed in persons with clear clinical symptoms. According to the recommendations of the Society of Medical Genetics and Genomics ČLS JEP, every variant with pathogenic clinical significance detected using “next generation sequencing” (NGS) must be verified by another method (most often Sanger sequencing, MLPA – multiple ligation-dependent probe amplification, etc.). When a pathogenic variant is detected, the result must be confirmed (confirmed) by examination of a sample from a repeated independent collection of peripheral blood by the direct method.
Predictive (presymptomatic) genetic testing is used to predict future risk of disease. We are talking about predictive testing in asymptomatic individuals who are at risk of disease. If the disease is associated with a known variant of genetic information in the family, then the previously described variant of the gene is directly tested (searched) in relatives at risk. Depending on the nature of the tested genetic variant, the standard Sanger sequencing method is most often used, less often the analysis is performed using MLPA (multiple ligation-dependent probe amplification) and others.
We offer confirmatory and predictive testing of all variants that we examined in the GENvia, s.r.o. laboratory.
Upon agreement, it is possible to offer confirmatory and predictive testing of other previously proven causal variants (“individual design examination”).
Who is the examination intended for?
All clients for confirmation/examination of known previously proven variant in the anamnesis
Report delivery date: on request (depends on the test methodology used)
Price: on request (depends on the test methodology used)
If indicated, other genetic tests may be offered.
Examinations are covered by public health insurance. For uninsured clients, we can offer examinations in a self-pay mode.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
COVID-19 examination
The GENvia laboratory is approved by the State Institute of Public Health (SZÚ) to perform tests for the presence of SARS-CoV-2 RNA virus, causing the disease COVID-19, by PCR method (permit number: SZU/03164/2020).
The laboratory participates in the proficiency testing system for proof of the presence of the SARS-CoV-2 virus organized by the State Health Institute (SZÚ) and the World Health Organization (WHO). Examination for the presence of RNA of the SARS-CoV-2 virus by the real-time PCR method is accredited according to the requirements of the ČIA, o.p.s.
The laboratory does not take samples. Material for examination is distributed directly to the laboratory by sampling centers or workplaces authorized to indicate this examination.
Description of the examination:
The examination is intended to detect the SARS-CoV-2 virus, which causes the highly infectious disease COVID-19 (coronavirus disease 2019). The disease is mainly manifested by fevers, respiratory problems (cough, shortness of breath), muscle pain fatigue. A more severe course of the disease is observed older people or patients other serious diseases. In these individuals, the disease can lead to death. On other hand, the disease progressing a number infected people asymptomatically.
The examination is based on the detection of viral RNA in the patient’s sample by performing a molecular examination using the real-time PCR method. Examination of the patient will confirm/disprove the currently ongoing disease of COVID-19. The test cannot determine whether the patient has already experienced the disease in the past. The declared sensitivity of the RT-PCR methodology for proving the presence of SARS-CoV-2 virus RNA is 50 copies of the virus in the sample. The sensitivity is fundamentally influenced by the sampling method. Therefore, a necessary condition for achieving the declared sensitivity of the test is a correctly performed sampling (the recommended procedure is a nasopharyngeal swab). Je-li jasně indikováno v žádance „ŽÁDANKA S INFORMOVANÝM SOUHLASEM K VYŠETŘENÍ SARS-COV-2″, může být pro účely preventivního screeningového testování využita metoda poolování. When pooling, a decrease in sensitivity may occur for samples with a limited amount of viral genetic material. The result of the test using the pooling method can be further influenced by the quality of the sample taken, which cannot be guaranteed with the use of pooling technology. Nezbytnou podmínkou pro dosažení validního výsledku je správně provedený odběr dle „POSTUP VÝTĚRU Z NOSOHLTANU“ zde prosím odkaz na aktuální verzi formuláře BF190.
Indications for examination:
Temperature ≥ 37.5 °C, dry cough, shortness of breath (if these symptoms cannot be explained otherwise)
Material for examination:
For examination, a swab from the nasopharynx (accessible through the nasal cavity) is preferred, where the epithelium with ciliated cells is located. A swab from the middle part of the pharynx (accessible through the oral cavity) can be added as supplementary material to the nasopharyngeal swab. Swabs should be immersed in a tube with liquid viral transport medium. The examination can also be performed from a sample of saliva, sputum, BAL, tracheal aspirate or lavage of the oral cavity and pharynx (gargle).
The time from taking the sample to its acceptance by the laboratory must not exceed 24 hours. Samples can be transported at room temperature.
Date of delivery of the examination result:
The result of the examination is delivered within 48 hours after receiving the sample in the laboratory.
Price: 800 CZK
PCR test results
You can download the result of the laboratory examination here:
(to download the result, it is necessary to proceed according to the offered variants)
If indicated, other genetic tests may be offered.
Analysis of 57 genetic polymorphisms.
Determining whether you will be the fastest sprinter in the world or become a top hockey or judo player is not just a matter of determination, strong willpower and hard training. Genetic predispositions are also very important.
Just as genes affect the colour of your eyes or your height, there are also genes that affect your strength, your endurance, how quickly your body can recover after exercise or whether you will be prone to injury. This knowledge can then be applied very well to your training, which can take you one step closer to your goal. And it is the analysis of dozens of these genes that affect your athletic performance that we focus on.
Sport efficiency:
We analyze the genes that influence various factors of athletic performance. These include genes that affect muscle fiber structure, aerobic capacity and the ability to maximize oxygen utilization, energy metabolism, and more. Based on the information from these genes, it is then determined whether you have the aptitude for strength or endurance type performance and what type of training is appropriate for you to achieve maximum performance. For novice athletes, the examination can outline whether to focus more on strength or endurance sports to maximize genetic predispositions.
Injury and recovery:
This section focuses on genes that increase or decrease the risk of injury, not just in athletic performance. These include genes essential for the proper structure and function of connective tissues such as tendons and ligaments, or genes associated with the risk of osteoarthritis. This area also includes the analysis of genes that are essential for the proper function of the immune system.
Nutrigenetics:
The last part focuses on genes in the field of micronutrients (vitamins, minerals, trace elements) and macronutrients (sugars, fats, proteins). These are important not only for physical performance but also for a healthy lifestyle. These include, for example, the body’s management of iron, vitamins A, B, C, D, caffeine or calcium. Based on this knowledge, the diet can be adjusted (poor absorption of vitamins, the effect of caffeine supplementation on performance, etc.) to maximize the overall effect on health, body composition and sports performance.
As a result, you will find a clear graphical representation for each functional group of genes along with a detailed appendix.
Who is the examination intended for?
The examination is intended for all clients who wish to identify hidden genetic predispositions in the areas of sport, general health and lifestyle.
Report delivery time: 3 months
Price: 12 500 CZK
If indicated, other genetic tests may be offered.
The accredited laboratory GENvia, s.r.o. offers testing of a panel of 58 germline variants in genetic information that have been shown to increase the risk of diseases of civilization. Civilisation diseases is a collective term for a group of diseases, the occurrence of which is typical for developed countries, where people live a modern urban lifestyle, including the risks and habits associated with it (excessive consumption of food and alcohol, excessive and continuous stress, lack of physical exercise, consumption of industrially produced food, consumption of excessively fatty, sweet and salty food, etc.).
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The test is performed on DNA isolated from a client’s sample using a massively parallel sequencing method, more commonly known as Next Generation Sequencing (NGS). This method of testing allows efficient characterisation of individual variants in 58 gene locations or regulatory regions that have been shown to predispose to subsequent diseases:
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Diseases of the digestive system |
Diseases of the heart and vascular system |
||
|
DQA1 |
Celiac disease |
LRP1 |
Abdominal aortic aneurysm |
|
NOD2 variant 1 |
Crohn’s disease |
HDAC9 |
Ischemic stroke |
|
NOD2 variant 2 |
Crohn’s disease |
PITX2 |
Ischemic stroke |
|
HNF4A |
Ulcerative colitis |
ZFHX3 |
Ischemic stroke |
|
RNF186 |
Ulcerative colitis |
MIA3 |
Ischaemic heart disease |
|
SERPINA1 variant Z |
Cirrhosis and liver disease |
PHACTR1 |
Ischaemic heart disease, atherosclerosis |
|
SERPINA1 variant S |
Cirrhosis and liver disease |
CDKN2B-AS1 |
Ischaemic heart disease |
|
HFE variant 1 |
Haemochromatosis, cirrhosis, liver disease |
MRAS |
Ischaemic heart disease |
|
HFE variant 2 |
Haemochromatosis, cirrhosis, liver disease |
LPA |
Ischaemic heart disease |
|
PNPLA3 |
Cirrhosis and liver disease |
HNF1A |
Ischaemic heart disease, atherosclerosis |
|
PTPN22 |
Diabetes type I. |
CELSR2 |
Ischaemic heart disease, atherosclerosis |
|
INS |
Diabetes type I. |
CXCL12 |
Ischaemic heart disease |
|
DQB1 |
Diabetes type I. |
LPL |
Ischaemic heart disease, atherosclerosis |
|
TMEM18 |
Diabetes type II., obesity |
APOE variant 2 |
Ischaemic heart disease, atherosclerosis |
|
CDKAL1 |
Diabetes type II. |
SMARCA4 |
Ischaemic heart disease |
|
IGF2BP2 |
Diabetes type II. |
F5 Leiden |
Thrombosis and risk of pulmonary embolism |
|
MC4R |
Diabetes type II., obesity |
ABO variant 1 |
Thrombosis and risk of pulmonary embolism |
|
SLC30A8 |
Diabetes type II. |
ABO variant 2 |
Thrombosis and risk of pulmonary embolism |
|
PPARG |
Diabetes type II. |
F2 Prothrombin |
Thrombosis and risk of pulmonary embolism |
|
KCNJ11 variant 1 |
Diabetes type II. |
||
|
KCNJ11 variant 2 |
Diabetes type II. |
||
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HHEX |
Diabetes type II. |
Diseases of the musculoskeletal system |
|
|
TCF7L2 |
Diabetes type II. |
DQB1 |
Asthma |
|
FTO |
Diabetes type II., obesity |
CFTR |
Cystic fibrosis |
|
Diseases of the musculoskeletal system |
Oncological diseases |
||
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HLA-B27 |
Bechterew’s disease |
VDR |
Cutaneous malignancies (basalioma) |
|
HLA |
Rheumatoid arthritis |
CASC8 |
Prostate cancer |
|
WNT16 |
Osteoporosis |
BRCA1 |
Breast and ovarian cancer |
|
LRP5 |
Osteoporosis |
PARP1 |
Cutaneous malignancies (melanoma) |
|
VDR |
Osteoporosis |
||
|
Diseases of the psychiatric spectrum |
Eye defects and diseases |
||
|
DQB1 |
Depression |
CFH |
Retinal degeneration |
|
APOE variant 1 |
Alzheimer’s disease |
ARMS2 |
Retinal degeneration |
|
APOE variant 2 |
Alzheimer’s disease |
||
|
ABCA7 |
Alzheimer’s disease |
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Who is the examination intended for?
All those who are interested in analyzing their hereditary predisposition to civilization diseases. The result of the examination will allow clients to preventively adjust their lifestyle according to their personal risk.
Report delivery date: 3 months
Price: 15 500 CZK
If indicated, other genetic tests may be offered.
Are you planning a baby?
Even if you are perfectly healthy, you are very likely to carry one or two hidden hereditary diseases in your DNA. If your partner is also a hidden carrier of the same disease, as a couple you have a 25% chance of having a child with the disease (see diagram on the opposite page). Be one step ahead and address the health of your future offspring early. Our GENkomp partner compatibility test allows you to reduce this risk by more than 96%* compared to an untested couple. Experience family planning and your pregnancy without unnecessary worries.
What do we offer?
The GENkomp partner compatibility test is currently the most comprehensive and thorough test of this type on the Czech market. Unlike other genetic centres offering similar tests for only 35 to 110 hereditary diseases, our laboratory offers testing for any deviation in your DNA responsible for 163 serious hereditary diseases (a complete list of all 163 diseases and responsible genes can be provided on request). These are the most common and well-known inherited diseases, such as phenylketonuria or spinal muscular atrophy. However, we also analyse a number of rarer diseases whose impact on the health of the child and the life of the parents is substantial, and in many cases fatal. Last but not least, the GENkomp test is also able to reveal the causes of infertility or to help in the choice of its adequate treatment. If a risk of disease is found for your planned baby, then assisted reproduction options can be offered, with the selection of a healthy embryo before its transfer to the uterus, or the use of healthy donor eggs or sperm. If the pregnancy is already underway, the fetus can be tested to rule out the disease and adequate medical care can be suggested.
For whom is the test intended?
All couples who are interested in minimizing the risk when planning a pregnancy
Couples with a genetic condition in the family of one or both partners
Couples in a kinship relationship considering pregnancy
Couples with fertility disorders
Report delivery date: 3 months
Price:
GENkomp partner compatibility test: 35 000 CZK (examination of a couple in self-pay mode), 17 000 CZK (examination of a couple with co-payment)
GENkomp carriage test (analysis of all pathogenic and probably pathogenic variants): 22 500 CZK (individual in self-pay mode), 13 500 CZK (individual with co-payment)
* Taber, Katherine Johansen, et al. “A guidelines-consistent carrier screening panel that supports equity across diverse populations.” Genetics in Medicine 24.1 (2022): 201-213.
If indicated, other genetic tests may be offered.
The examination can be partially covered by public health insurance in the indicated cases. For uninsured clients, we can offer the examination in a self-pay mode.
GENvia, s.r.o. has concluded contracts with all health insurance companies operating in the Czech Republic.
Hours of attendance
| Monday | 07:00-17:00 |
| Tuesday | 07:00-17:00 |
| Wednesday | 07:00-17:00 |
| Čtvrtek | 07:00-17:00 |
| Pátek | 07:00-17:00 |
Contact
| Head of laboratory: | Ing. Renáta Chládová |
| Deputy head of the laboratory: | RNDr. Miroslava Krkavcová |
| Phone | 266 315 592 |
| Mobile phone: | 773 669 442 |
| e-mail: | laborator@genvia.cz |
Note: Delivery of samples outside office hours is possible by prior arrangement.
Location of the laboratory
Genetic laboratory GENvia, s. r.o. is situated in Praha – Kyje (Prague part Kyje) on the address: Sýkovecká 276/54, 198 00 Praha 9. Information about accessibility of the laboratory including the map you can download and print here.