Genetics

The first part is an interview (anamnesis), the aim of which is to gather as much information as possible about the patient and their condition. This also includes an analysis of medical records and obtaining important information about relatives (pedigree analysis). This covers, for example, the occurrence of serious diseases, congenital defects, recurrent miscarriages, deaths, intellectual disability, consanguineous relationships, etc. If necessary, we also perform a clinical examination (height, weight, monitoring of various physical signs and changes) or recommend further specialized (e.g., imaging) examinations.

Based on the information obtained, the doctor informs the patient about the next steps and proposes genetic laboratory tests. After the patient’s consent and signing of the Informed Consent form, a sample is collected for laboratory testing. You do not need to fast before the blood sample collection.

Genetic laboratory tests are performed at the Department of Medical Genetics MEDIREX, a.s. In individual cases, we also cooperate with other laboratories that provide genetic testing.

After the examinations are performed in the laboratories, the results are evaluated and consulted, where the doctor will propose further steps and provide you with a medical report.

Genetic consultations are always held at a pre-arranged time and without unnecessary waiting. We offer the earliest available appointment to pregnant patients. You can book an appointment via form, email, or phone.

Please bring a referral from the doctor who recommended the genetic consultation (e.g., from a general practitioner, gynecologist, pediatrician, oncologist…). If you do not have a referral, we also provide genetic examinations for self-payers. Please also bring medical reports and results from previous examinations related to the reason for the genetic examination. If you are pregnant, please also bring your pregnancy record book.

• during family planning and pregnancy (e.g., in case of congenital developmental defect or genetically determined disease in the family, maternal age over 38, positive prenatal biochemical screening, pathological ultrasound finding in the fetus, uninformative or positive result of non-invasive prenatal test, teratogenic risk, consanguineous relationship, etc.)
• for couples with infertility, recurrent reproductive losses, in connection with IVF treatment or egg/sperm donation
• for menstrual cycle disorders
• in case of suspected hereditary cancer (recurrent occurrence of oncological diseases in the family, occurrence at a young age)
• for children and adults with a congenital developmental defect or suspected genetic disease
• for growth disorders, physical and mental development, onset of puberty
• in the differential diagnosis of neurological (e.g., muscle diseases) and cardiovascular diseases (e.g., cardiomyopathies, arrhythmias), in case of suspected hereditary metabolic disorders, skeletal dysplasias, connective tissue diseases, hearing and vision disorders, and others