Mutations in 496 neuromuscular disease associated genes

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

Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation

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

Mutations in 2938 genes associated with childhood onset leukodystrophy

Mutations in 594 genes associated with hearing loss

Mutations in 288 arthrogryposis associated 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