Dystonia 6, Torsion (THAP1) Targeted Testing

Short Name: THAP1 Targeted

Torsion dystonia-6 (DYT6) is an autosomal dominant movement disorder caused by a pathogenic variant in the THAP1 gene. DYT6 is characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties. A heterozygous truncating variant in the THAP1 gene, c.135_139delinsGGGTTTA (p.Phe45Leufs*), has been identified in the Amish-Mennonite families affected with DYT6. This targeted test is developed to specifically analyze the c.135_139delinsGGGTTTA variant.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 602629
MedGen: 236274