Intellectual Developmental Disorder and Retinitis Pigmentosa (SCAPER) Targeted Testing

Short Name: SCAPER Targeted

Intellectual developmental disorder and retinitis pigmentosa is characterized by mild to moderate intellectual disability and typical features of retinitis pigmentosa. Common symptoms experienced by patients include recued night vision, constriction of visual fields, and reduced visual acuity. Some patients are also observed to have attention-deficit/hyperactivity disorder. The c.2236dupA (p.Ile746Asnfs*6) variant in the SCAPER gene has been found in the Amish and is associated with the disorder. The c.223dupA variant is specifically analyzed in this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 618195
MedGen: 1648358