Autosomal Recessive Deafness-70 (PNPT1) Targeted Testing

Short Name: PNPT1 Targeted

Autosomal recessive deafness-70 is a neurologic disorder with a variable disease course. Affected individuals present with isolated congenital sensorineural hearing loss in infancy. Hearing loss appears to be stable for the first decades of life but patients may be at risk of developing multisystem disease in mid-to-late adulthood. The c.1925_1927delTGG (p.Val642del) variant in the PNPT1 gene has been found among Amish populations and is the variant specifically analyzed by this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 614934
MedGen: 760477