Genetic examinations list
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Fragile X syndrome – detection of CGG repeat expansion in the FMR1 gene
The testing is performed to determine the presence and extent of CGG triplet expansion in the IT15 region of the FMR1 gene.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
1 weekCystic 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 weekMicrodeletion of Y chromosome – AZFa, AZFb, AZFc including SRY
Testing for microdeletions in the AZF (azoospermia factors) region of the Y chromosome (AZFa, AZFb, AZFc) by fragmentation analysis.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weSTATIM
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 weeksQF-PCR aneuploidy testing of chromosomes 13, 18, 21, X and Y
Rapid diagnostic testing of prenatal samples is used to determine aneuploidy of chromosomes 13, 18, 21 and sex chromosomes by QF-PCR.
Material:
Chorionic villi, Amniotic fluid …STATIM
2 daysTesting for maternal contamination
Testing of maternal contamination of material after collection by invasive techniques, using QF-PCR.