Jalili Syndrome (CNNM4) Targeted Testing

AKA: Cone-Rod Dystrophy and Amelogenesis Imperfecta
Short Name: CNNM4 Targeted

Jalili syndrome is an autosomal recessive disorder caused by a pathogenic variant in the CNNM4 gene. The disorder consists of cone-rod dystrophy and Amelogenesis imperfecta. Patients present with visual impairment with nystagmus and photophobia during early infancy or early childhood and impairment progresses with age. The c.1813C>T (p.Arg605*) variant in the CNNM4 gene is responsible for the disorder in the Old Order Amish. The c.1813C>T variant is specifically analyzed in this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 217080
MedGen: 501210