Genetic examinations list
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Karyotyping in gamete donation candidate
It is used to determine karyotype by classical cytogenetic methods to determine numerical and structural chromosomal aberrations (deviations) of the gamete donor.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksCarrierTest – preconception panel of donor candidate (carriage of recessive mutations)
Testing for the hidden carriage of key mutations in recessive genes that may affect the health status of carriers and their offspring. CarrierTest intended for donors is a panel NGS test of selected regions using data from exome libraries.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
4 weeksSTATIM
2 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
3 daysCarrierTest Custom (IM) for Donors
CarrierTest Custom (IM) for Donors is a crucial genetic screening test designed for gamete donors, analyzing 35 genes associated with the most common serious autosomal recessive and X-linked diseases in our population. This test is essential to minimize the risk of unknowingly passing on a severe genetic condition to the recipients' offspring.
Material:
Peripheral blood, Isolated DNA from blood …Turnover Time:
4 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.