SNIP1-Related Neurodevelopmental Disorder (SNIP1) Targeted Testing

AKA: Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures
Short Name: SNIP1 Targeted

SNIP1-related neurodevelopmental disorder is an autosomal recessive disorder caused by a pathogenic variant in the SNIP1 gene. It is characterized primarily by hypotonia and poor feeding apparent in early infancy. A homozygous pathogenic variant, c.1097A>G (p.Glu366Gly), in the SNIP1 gene has been identified as the genetic cause of the disorder in the Amish. This targeted tests will specifically analyze the c.1097A>G variant.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 614501
MedGen: 482685