Genetic examinations list
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Karyotyping in postnatal diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in postnatal diagnosis.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksCascade testing for GJB2 gene mutation (for Connexin 26) – early non-syndromic AR deafness
Testing for GJB2 gene mutations (gap junction beta 2) responsible for hereditary autosomal recessive disease, early non-syndromic disorder/hearing loss and deafness, also referred to as DFNB1.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekKIR (Killer-cell immunoglobulin-like receptor) haplotype evaluation
The KIR haplotype (A/B) determination method allows for the identification of the mother's genetic makeup in the region of KIR receptors. These receptors play a crucial role in the communication between the mother's immune system and the embryo during pregnancy, where they recognize HLA-C molecules on the embryo's surface. Analysis of the KIR haplotype can help reveal specific maternal genotypes that, in combination with the fetal HLA-C, may be associated with a higher risk of pregnancy complications.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 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.