NRCAM-Related Neurodevelopmental Disorder (NRCAM) Targeted Testing

AKA: Neurodevelopmental Disorder with Neuromuscular and Skeletal Abnormalities
Short Name: NRCAM Targeted

NRCAM-related neurodevelopmental disorder is an autosomal recessive disorder caused by a pathogenic variant in the NRCAM gene. It is characterized by global developmental delay with highly variable severity beginning in infancy or early childhood. Most patients affected by the condition have skeletal defects and dysmorphic facial features. The c.2557C>T (p.Arg853Cys) and c.2705A>C (p.Lys902Thr) variants in the NRCAM gene are missense variants found in the Amish. The c.2557C>T and c.2705A>C variants are analyzed by this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 619833
MedGen: 1803456