Spastic Ataxia-4 (MTPAP) Targeted Testing

Short Name: MTPAP Targeted

Spastic ataxia 4 is an autosomal recessive neurodegenerative disorder characterized primarily by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. A homozygous missense variant, c.1432A>G (p.Asn478Asp), in the MTPAP gene was identified as the genetic cause of this disorder in a large family of Old Order Amish origin. This targeted test will specifically analyze the c.1432A>G variant.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 613672
MedGen: 462275