Genetic examinations list
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CarrierTest – 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 dayscfDNA 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.
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
3 weeksKaryotyping from AMC
Foetal karyotyping from amniotic fluid to determine chromosomal aberrations of the foetus.
Material:
Cultured cellsTurnover Time:
2 weeksKaryotyping from cordocentesis
Foetal karyotyping from cord blood to determine chromosomal aberrations of the foetus.