Hereditary Diseases

Genetic testing for Huntington disease-like 2 in the JPH3 gene

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

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

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)

Genetic testing for myotonic dystrophy type 2 in the CNBP gene

Genetic testing for myotonic dystrophy type 1 in the DMPK gene

Determination of triplet expansion in spinocerebellar ataxia type 3 (in the ATXN3 gene)