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 2938 genes associated with childhood onset leukodystrophy

Screening for mutations in the coding regions of 214 CAKUT associated 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