Mutations in 1089 epilepsy and epileptic syndromes associated genes

Mutations in 2981 genes, associated with genetic diseases of the CNS and peripheral neuropathies in childhood

Mutations in 661 genes associated with ataxia and syndromes and diseases, which include symptoms of ataxia

Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation

Mutations in 1131 autistic associated genes

Mutations in 1360 genes associated with chorea, dystonia and other movement disorders

Mutations in 2938 genes associated with childhood onset leukodystrophy

Mutations in 341 genes, associated with Retinitis pigmentosa

Mutations in 341 genes assotiated with retinal degeneration

Mutations in 27 genes associated with Bardet-Biedl syndrome

Screening for mutations in the coding regions of 214 CAKUT associated genes

Mutation panel 250 genes

Mutations in 810 genes associated with endocrine diseases

Mutations in panel of 597 genes

Mutations in panel ot 204 genes

Mutations in panel of 801 genes

Mutation is panel of 456 genes

Mutations in panel of 423 genes

Mutations in panel of 1012 genes

Mutations in 5227 genes associated with hereditary diseases

Sequencing of 19 396 RefSeq genes. Read depth: mean coverage >= 50X, guaranteed 85% of bases with quality score >=Q30

1 patient