Mutations in 2938 genes associated with childhood onset leukodystrophy

Mutations in 90 genes associated with cataract

Mutation is panel of 456 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

1 patient