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 monthPredictive mutation testing – SPAST gene (SPG4) and/or REEP1 gene (SPG31)
Testing for familial AD variants of SPAST gene (SPG4) and REEP1 gene (SPG31) using the NGS method.
Material:
Peripheral blood, Buccal swab …Turnover Time:
6 weeksSTATIM
3 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 weekPredisposition 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 weeksPaternity/relatedness test
Determination of paternity or relatedness by analysis of 16 STR markers.