Hereditary Diseases

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)

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)

Molecular genetic diagnosis of atypical hemolytic uremic syndrome

Gene diagnostics of Fabry disease (GLA gene)

Gene diagnostics of oculopharyngeal muscular dystrophy

Genetic diagnosis of spinal muscular atrophy (SMN1 and SMN2 genes)