PAFAH1B1 (LIS1) [OMIM#601545] abnormalities cause the most severe form of lissencephaly and are generally associated with a p>a gradient. Microdeletions involving 17p13.3 are present in 100% of patients with MDS and approximately 50% of patients with lissencephaly. Intragenic deletions of one or more exons of PAFAH1B1 are present in approximately 15% of patients with PAFAH1B1-related lissencephaly. Deletions and/or duplications in the PAFAH1B1 gene as causative of lissencephaly have been reported.
Specimen Types Accepted
If sending saliva, 2 kits are required.