Genetic ambulance Karlovo Náměstí

Genetic counselling is based on communication between the clinical geneticist and the client. If you are concerned about the possible genetic burden of your or your offspring, then it is advisable to discuss these concerns with a specialist.

The purpose is to provide the client with all the relevant information regarding their genetic burden, explain the results of the tests carried out so far, find possible causes of the disease and treatment options, but most importantly determine the risks of recurrence of the disease in offspring, or suggest measures to reduce these risks. The patient’s consent is required for all genetic tests and possible interventions.

Your GP or gynaecologist will make a recommendation for a genetic consultation. In some cases it is possible to have a consultation without a doctor’s recommendation.

It is important to note that any information you provide as part of a genetic consultation is confidential. The clinical geneticist will inform you of the findings in a strictly non-directive manner. He or she may recommend further tests and suggest measures to help resolve your situation. It is the inalienable right of the consulted person or couple to decide freely on the proposed course of action. It is important to remember that all information you provide in the genetic consultation is confidential. The clinical geneticist will inform you of the findings in a strictly non-directive manner. He or she may recommend further tests and suggest measures to help resolve your situation. It is the inalienable right of the consulted person or couple to decide freely on the proposed course of action.

The genetic diagnosis is based on the client’s medical records, clinical and genetic examinations, or examinations of the extended family. If necessary, a number of specialised genetic tests can be performed in our accredited laboratory. Once a diagnosis (even a probable one) has been made, the clinical geneticist will inform you clearly about the genetic prognosis and possible risks. It is important that the information conveyed is understandable to the client, especially if it leads to a major decision. The doctor must always accept this decision.

Before or during the genetic consultation it is necessary to fill in the Genetic Testing Questionnaire. You can download the questionnaire form in the link below or in the Downloads section, or pick it up in person at the GENvia outpatient clinic at any time during office hours. You can fill in the documents for the genetic consultation in the comfort of your own home. If you do not use this option, you will receive and complete the questionnaire during the genetic consultation.

Here is a brief overview of clients for whom the genetic consultation is suitable:

• Partners with positive anamnesis (infertility, sterility of unknown aetiology, repeated abortions, congenital malformations, hereditary diseases in the family)
• Partners prior to artificial insemination
• Sperm and oocytes donors by IVF
• Investigation of blood-related partners, kinship marriages
• Families with the incidence of cancer in several generations or by a child
• Families with the incidence of cystic fibrosis
• Families with the incidence of congenital anomalies or suspected hereditary diseases
• Persons with hereditary tendency to thrombosis (thrombophilia mutation testing)
• Persons with bone dysplasia, small or excessive growth
• Children with precocious or delayed puberty or genital developmental defects
• Children with psychomotor retardation
• Pregnant women with pathologic findings in biochemical screening or ultrasound findings
• Pregnant women over 35 years at time of delivery
• Influence assessment of mutagens (work in high-risk premises, the state after cytostatic treatment)