NGS of 12 gene panel: AP1S1, ATP13A2, C12orf57, CA2, CA6, DHCR7, DYM, FLVCR1, HOXA1, IRX5,KIF1BP, MKKS

Consult

Documentation:
Ref: LV3021 Categories: , , , , , , Diseases: Intellectual Disability autosomal recessive syndromes: Mednik, Kufor-Rakeb, Temtamy, Marble Brain disease, Smith-Lemli-Opitz , Dyggve-Melchior-Clausen, Smith-McCort dysplasia, Ataxia posteriorGenes: CA2, HOXA1, AP1S1, C12ORF57, MKKS, CA6, DYM, ATP13A2, FLVCR1, DHCR7, IRX5, KIF1BPDelivery term: 42 days