Genetic examinations list
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CarrierTest – preconception panel with partner compatibility
CarrierTest is a panel NGS test of selected regions with an impact on parental fertility and offspring health, using data from exome libraries. It determines the hidden carriage of key mutations in recessive genes that cause more than 60 genetic disorders and conditions.
When to order this test: Preconception test for couples – indication of CarrierTest for both partners, including mutual compatibility (method for compatibility is sent automatically with this test). If one of the partners already underwent CarrierTest at our workplace and now has a new partner, we will order this test for the new partner (if he/she did not undergo CarrierTest at our workplace) and order the “Addition of compatibility testing to the partner’s CarrierTest” method for the patient. If both partners underwent CarrierTest at our workplace, we choose only the “Addition of compatibility testing to the partner’s CarrierTest” for both partners.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weeksCarrierTest – preconception panel
CarrierTest is a panel NGS test of selected regions using data from exome libraries. It determines the hidden carriage of key mutations in recessive genes that cause more than 60 genetic disorders and conditions with an impact on parental fertility and offspring health.
Preconception genetic testing of one person without a partner (single).
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weeksCystic fibrosis – 50 mutations + Tn variants of IVS8 in the CFTR gene
Testing for the 50 most common CFTR gene mutations and determination of polymorphism in intron 8 (IVS8 Tn/TGn). These 50 mutations represent over 92% of the findings in patients diagnosed with CF in the Czech population using fragmentation analysis.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
1 weekAddition of compatibility testing to the partner’s CarrierTest
When to use this test: We have already performed CarrierTest in the patient, the partner either underwent it too or is now indicated for this test, but they have not yet been tested for their mutual compatibility, which is now required.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weekscfDNA test GENNET
Screening of cell-free foetal DNA (cfDNA) from the blood of a pregnant woman to detect aneuploidy of sex and non-sex chromosomes of the aborted foetus and its gender. From week 10 of the pregnancy.
Material:
Peripheral bloodTurnover Time:
2 weeksSTATIM
1 weekCascade prenatal testing (by QF-PCR, array) excluding maternal contamination
Cascade aneuploidy testing of material after invasive prenatal examination using QF-PCR and array methods, excluding maternal contamination. This can be supplemented by foetal karyotyping, if necessary.