Genetics

Cytochrome P450 1A2 gene. Genotyping for the CYP1A2 (c.-163C>A) marker

Molecular genetic diagnostics of urticaria and mastocytosis (c-KIT, NLRP)

Genetic analysis of caffeine effects (genetic markers CYP1A2 (c.-163C>A) and ADORA2A (c.1083T>C))

NIPT First Test Medium (aneuploidies of chromosomes 21, X, Y)

Genetic diagnosis of autosomal dominant arteriopathy syndrome CADASIL (NOTCH3 gene)

Pharmacogenetic testing for thiopurine therapy (azathioprine, mercaptopurine, thioguanine),

Genetic testing for Kennedy's disease (spinal and bulbar muscular atrophy) in the AR gene

Detection of GAA repeat expansion in the FXN gene in Friedreich's ataxia (FA)

Genetic examination for Huntington disease-like 4 in the TBP gene

Determination of triplet expansion in spinocerebellar ataxia type 6 (in CACNA1A gene)