Genetic examinations list
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Predictive testing of familial mutation
Predictive testing of known familial mutation using Sanger sequencing.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysPredictive 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 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 weeksPaternity/relatedness test
Determination of paternity or relatedness by analysis of 16 STR markers.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksNon-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 bloodPharmacogenetics – PGX test
Testing for congenital predispositions affecting drug metabolism by SNP array.