Genetic examinations list
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Determination 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 weekHLA DQA1*05 typing (immunogenicity)
Detection of the presence of HLA DQA1*05*01 and HLA DQA1*05*05 alleles by real-time PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekFamilial hypercholesterolaemia – FH test
Testing for familial hypercholesterolaemia (FH) using SNP array.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
4 weeksSTATIM
3 weeksPharmacogenetics – PGX test
Testing for congenital predispositions affecting drug metabolism by SNP array.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
4 weeksSTATIM
3 weeksCystic 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).