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Predisposition 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 weeksDetermination of TPMT mutation status, allele *1, *2, *3A, *3B, *3C (mutations c.238G>C, c.460G>A and c.719A>G)
TPMT gene testing is performed by PCR and reverse hybridization strip assay to detect *1, *2, *3A, *3B, *3C alleles (c.238G>C, c.460G>A and c.719A>G mutations), which are responsible for the reduced activity of this enzyme catalyzing components of thiopurine drugs used in cancer therapy.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysDetermination of NUDT15 gene mutation status, allele *1, *2, *3, *4, *5 (mutation c. 415C>T, c. 416 G>A and c.52G>A)
NUDT15 gene testing by real-time PCR is performed to detect NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*4, and NUDT15*5 alleles (c. 415C>T, c. 416G>A, and c.52G>A), which are involved in the metabolism of thiopurine drugs.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekPaternity/relatedness test
Determination of paternity or relatedness by analysis of 16 STR markers.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksDNA sperm fragmentation test (Halosperm)
Determination of the percentage of sperm with fragmented DNA using the Halosperm kit.
Material:
EjaculateTurnover Time:
1 dayPharmacogenetics – PGX test
Testing for congenital predispositions affecting drug metabolism by SNP array.