Preconception screening revealing hidden (healthy) carriers of mutations for monogenic recessive diseases (autosomal recessive or X-linked inheritance). The screening is designed as a partner-based test – the evaluation of reproductive risks for the couple is included as a separate report when both partners are tested.

Test information

• Developed by Genetika Plzeň, fully validated by the laboratory, and used for patient testing since 2021.
• This is an Expanded Carrier Screening targeting the most common serious recessive diseases across all global ethnicities, such as cystic fibrosis, spinal muscular atrophy, non-syndromic deafness (with GJB2 gene mutation), α and β thalassemia, sickle cell anemia, phenylketonuria, type 1 albinism, and others (for a complete list of diseases and genes, see Carrier Screening – List of Tested Diseases).
• A total of 103 genes associated with 128 autosomal recessive and 23 X-linked monogenic diseases are tested.
• The panel design respects the recommendations of international and Czech professional societies for preconception screening (ACMG, ACOG, SLGG ČLS JEP) and includes most genes for diseases detected in the Czech Republic within the framework of newborn screening.
• The examination is performed using the most modern laboratory methodology – next-generation sequencing (NGS), which is the first technology to allow the simultaneous analysis of many genes. The entire coding sequence of all genes is examined (not just the most common mutations), and extensive (exon) gains/losses (Copy Number Variations) are also analyzed, significantly increasing mutation detection rates (up to 99%) and thus reducing residual carrier risk.
• The test also includes gene variants that may be related to reproductive disorders, including congenital thrombophilic conditions. The results of this analysis have diagnostic significance and also contribute to the individualization of potential infertility treatment using assisted reproduction methods (see List of Tested Gene Variants).

Cost and ordering

• For Czech insurance holders, the examination is partially covered by health insurance with a co-payment of 3500 CZK per person. In addition to the evaluation of Carrier Screening and the reproductive risks of the couple, the evaluation of gene variants related to reproductive disorders is always performed. The examination must be indicated by a clinical geneticist and follow a genetic consultation.
• For international self-payers, the test is priced at 690 EUR per person for Carrier Screening (the test additionally includes examination of the FMR1 gene by another detection method). Evaluation of variants related to reproductive disorders is with an additional fee of 60 EUR per person.
• The test is performed from a peripheral blood sample collected in EDTA. A request form for molecular genetic testing and informed consent for genetic testing must be attached to the sample..