Charcot-Marie-Tooth Disease, Type 4A (GDAP1) Targeted Testing

Short Name: GDAP1 Targeted

Charcot-Marie-Tooth disease (CMT) constitutes a large group of genetically heterogeneous disorders. Autosomal recessive forms of CMT are less common in the general population but account for the vast majority of CMT phenotypes in communities with a high prevalence of consanguinity. CMT is characterized by distal motor and sensory impairment resulting in gait difficulties and associated foot deformities. The c.692C>T (p.Pro231Leu) variant in exon 5 of the GDAP1 gene is the most frequent pathogenic variant found in the Old Order Amish population and is specifically analyzed in this targeted test.

CPT Code: 81403

Turn-Around Time: 4 weeks