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 weeksBekhterev’s disease – HLA-B27 haplotype
The testing focuses on the detection of the HLA-B27 allele by real-time PCR in suspected ankylosing spondylitis (Bekhterev’s disease), reactive arthritis, juvenile rheumatoid arthritis or anterior uveitis.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysKIR (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.