HERC2 Disorder (HERC2) Targeted Testing

AKA: Autosomal Recessive Intellectual Developmental Disorder-38; HERC2 Defect Syndrome
Short Name: HERC2 Targeted

HERC2 disorder also known as blue eye delay is an autosomal recessive condition characterized by a unique phenotype of cognitive delay, autistic behavior, and gait instability. The homozygous missense variant c.1781C>T (p.Pro594Leu) in the HERC2 gene is the pathogenic variant associated with HERC2 disorder in Old Order Amish patients. This targeted test will specifically analyze the c.1781C>T variant.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 615516
MedGen: 816083