Mutations in NDE1 [OMIM#609449] were reported in children with severe congenital MIC, with brains smaller than 10 SD below the mean, with simplified gyri, and profound developmental handicap with normal body growth. NDE1 is highly expressed in the developing human and mouse cerebral cortex, particularly at the centrosome, and has a role in mitotic spindle assembly during early neurogenesis. Deficiency of NDE1 therefore appears to cause failure of neurogenesis and a deficiency of cortical lamination. Deletions/duplications in the NDE1gene have been reported as causative of microcephaly. We offer deletion/duplication analysis for NDE1, which is performed by oligonucleotide array-CGH. NDE1 deletion/duplication analysis is also available as part of the Microcephaly Tier 2 Deletion/Duplication Panel. Please see our information sheet for more details.
4 - 6 weeks
Specimen Types Accepted
If sending saliva, 2 kits are required.