NGS of 7 gene panel: BCOR, HCCS, SOX2, STRA6, TUBA8, ZNF592, PAX6

Consult

Documentation:
Ref: LV2992 Categories: , , , , , , , Diseases: Microphthalmia, syndromic; Optic nerve hypoplasia and abnormalities of the central nervous system; Chondrodysplasia with platyspondyly, hydrocephaly, and microphthalmia; Cerebellar ataxia witGenes: HCCS, PAX6, STRA6, ZNF592, SOX2, BCOR, TUBA8Delivery term: 42 days