Genetics

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)

Diagnosis of primary dystonia type 1 (CAG-triplet deletion in the TOR1A gene)

Determination of triplet expansion in spinocerebellar ataxia type 2 (in the ATXN2 gene)

Determination of triplet expansion in spinocerebellar ataxia type 1 (in the ATXN1 gene)

Assessment of statin therapy toxicity (simvastatin, lovastatin, atorvastatin, pitavastatin, pravastatin, rosuvastatin, fluvastatin)

Comprehensive screening for Huntington disease-like syndromes (HDL2, HDL4, DRPLA)

Molecular genetic diagnosis of thrombotic thrombocytopenic purpura (ADAMTS13 gene exons 5, 6, 20, 24, 29)

Comprehensive study of Protein C, Protein S and Antithrombin III deficiency in thrombophilia (SERPINC1 gene exons 2, 7, PROS1 gene exons 11, 12, PROC gene exons 3, 7)