Hereditary Diseases

Investigation of chromosomal microdeletions and microduplications

Determination of triplet expansion in spinocerebellar ataxia type 7 (in the ATXN7 gene)

Genetic diagnosis of beta-thalassemia and hemoglobinopathies (mutations in the HBB gene)

Genetic examination for dentatorubral-pallidoluysian atrophy in the ATN1 gene

Whole-gene molecular genetic testing of 1 copy of the SMN1 gene in spinal muscular atrophy

Gene diagnostics for Duchenne/Becker muscular dystrophy

Genodiagnostics of Wilson's disease (ATP7B gene mutations)

Genetic diagnosis of adrenogenital syndrome, investigation of CYP21A2 gene mutations

Genodiagnostics of Fragile X syndrome (Martin-Bell syndrome) in males

Gene diagnostics of Rett syndrome, search for mutations in the MECP2 gene