Genetic examinations list
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Clinical exome (WES)
NGS analysis of exome and other clinically relevant regions of the patient’s genome.
We recommend simultaneously performing exome analysis also in the parents of the foetus – so-called trio analysis. For trio analysis, order following test for parents together with this test: Clinical exome – blood relatives proband.
Material:
Peripheral blood, Buccal swab …Turnover Time:
6 monthsSTATIM
1 monthClinical exome (WES) – blood relatives
DNA testing of relatives using exome sequencing method to determine causal variants responsible for patient phenotype (duo/trio analysis).
Material:
Peripheral blood, Buccal swab …Turnover Time:
6 monthsSTATIM
1 monthKaryotyping in postnatal diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in postnatal diagnosis.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksTesting for acquired chromosomal aberrations
Karyotyping to determine the level of chromosome damage in peripheral blood lymphocytes.
Material:
Peripheral bloodTurnover Time:
2-8 weeksPredisposition to coeliac disease HLA-DQ2.5 (DQA1*05/DQB1*02), HLA-DQ2.2 (DQA1*02/DQB1*02), HLA-DQ8 (DQA1*03/DQB1*03:02)
Testing for predisposition to coeliac disease by real-time PCR to detect DQ2.5, DQ2.2 and DQ8 haplotypes.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 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.