Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation

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

Mutations in 810 genes associated with endocrine diseases

Mutations in panel of 597 genes

Mutations in panel of 423 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