Genetic Testing in Brno

This genetic test analyses inherited variants associated with an increased tendency to abnormal blood clotting (thrombophilia). The base panel covers the two most clinically important variants — Factor V Leiden and the prothrombin G20210A mutation — and an extended panel adds the MTHFR variant. The test is performed from a blood sample and is often requested before hormonal therapy, in pregnancy planning, or after a personal or family history of thrombosis.

This non-invasive test determines the sex of the fetus by detecting Y-chromosome (SRY gene) DNA fragments in a maternal blood sample. It requires only a routine blood draw and can be performed from early in pregnancy, giving expectant parents an early and reliable answer without any invasive procedure. The same SRY detection method is also offered as a standalone test, for example for sport eligibility verification.

For pregnancies undergoing invasive sampling (amniocentesis or chorionic villus sampling), the laboratory provides diagnostic chromosomal analysis of the fetal sample. Options range from rapid QF-PCR detection of the most common aneuploidies through to a full fetal karyotype and high-resolution microarray analysis for microdeletion and microduplication syndromes. These are confirmatory diagnostic tests, typically performed after a high-risk screening result or on clinical indication.

A karyotype is a microscope-level analysis of all of a person's chromosomes, prepared by culturing cells from a peripheral blood sample. It detects numerical chromosome abnormalities and larger structural rearrangements such as translocations, deletions, and duplications. The test is commonly requested in the work-up of infertility, recurrent pregnancy loss, developmental concerns, or a family history of chromosomal conditions. An expedited STAT option is available when a faster result is needed.

The laboratory provides DNA paternity and kinship testing using standard STR profiling of buccal swab or blood samples. A personal (informational) test answers the question privately for the participants, while the expert test follows a documented chain-of-custody procedure so the result is admissible as evidence in court and official proceedings. Both establish biological relationship with very high statistical certainty.

This genetic test screens for 68 of the most common mutations in the CFTR gene, the gene responsible for cystic fibrosis. Cystic fibrosis is one of the most common inherited recessive conditions, and carrier screening identifies whether a person carries a CFTR mutation. It is commonly requested by couples planning a pregnancy, by people with a family history of cystic fibrosis, and in the investigation of certain fertility problems.

CAPART (Czech Accurate Prenatal Aneuploidy Rapid Test) is a non-invasive prenatal test that analyses fetal DNA circulating in a maternal blood sample to screen for the most common chromosomal trisomies, including trisomy 21 (Down syndrome), 18 and 13. Introduced by the laboratory in 2026, it requires only a routine blood draw from the mother and carries none of the miscarriage risk associated with invasive sampling. Expanded variants add sex chromosome assessment and broader aneuploidy panels. The test is suitable from early in the second trimester and is offered to self-paying patients who want reassurance beyond standard ultrasound screening.

Preventbox is an expanded genetic carrier screening package that analyses a person's DNA for predisposition to 111 inherited conditions in a single test. It is aimed at people planning a family or wanting a broad preventive overview of their genetic carrier status, going well beyond single-gene tests by screening many recessive conditions at once.