Spastic Paraplegia-45 (NT5C2) Targeted Testing

Short Name: NT5C2 Targeted

Spastic Paraplegia-45 (SPG45) is an autosomal recessive condition caused by a variant in the NT5C2 gene. SPG45 is characterized by progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes, and extensor plantar responses that may be associated with intellectual disability. Symptoms appear during infancy. The c.430C>T (p.Arg144*) variant, found in the Amish, is specifically analyzed by this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 613162
MedGen: 854816