Genetic examinations list
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KIR (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 weeksPaternity/relatedness test
Determination of paternity or relatedness by analysis of 16 STR markers.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksExpert paternity test by court order
Expert paternity test by court order. The material is collected in the presence of a forensic expert and the results are provided with an expert opinion. The results of this test are intended for use in legal proceedings.
Material:
Peripheral blood, Buccal swabNon-invasive paternity test (upon agreement) from week 11 of the pregnancy
A non-invasive paternity test is performed upon agreement with the laboratory from week 11 of the pregnancy. The test is carried out from the blood of the mother, which contains the free DNA of the foetus, and the blood of the putative father. The test can only be carried out in singleton pregnancies (it is not possible to test the paternity of twins).
Material:
Peripheral blood, Peripheral bloodCystic 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, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysSpinal muscular atrophy – determination of copy number of exon 7 and 8 in the SMN1 gene
Examination of SMN1 and SMN2 genes associated with spinal muscular atrophy (SMA) by MLPA method. This concerns an autosomal recessive disease that is most often associated with homozygous deletion of exon 7 in the SMN1 gene (almost 95% of all patients with SMA).