Hereditary Diseases

Genetic diagnosis of cystic fibrosis. CFTR gene analysis (28 mutations)

Periodic disease (Familial Mediterranean Fever, search for mutations in the MEFV gene)

Genodiagnostics of hereditary hypercholesterolemia (LDLR gene)

Genetic diagnosis of hereditary forms of Parkinson's disease

SOD1 gene study in amyotrophic lateral sclerosis

PNPLA3 Gene Genotyping in Non-Alcoholic Fatty Liver Disease

Comprehensive diagnostics of familial hypercholesterolemia (APOB100, LDLR, PCSK9)

Detection of expansion in frontotemporal dementia and amyotrophic lateral sclerosis (C9orf72)

Genodiagnostics of Z and S alleles in alpha-1 antitrypsin deficiency

Whole Exome Sequencing