Yoder Dystonia (WDR73) Targeted Testing

AKA: Galloway-Mowat Syndrome-1
Short Name: WDR73 Targeted

Yoder Dystonia also known as Galloway-Mowat syndrome is a rare autosomal recessive condition characterized by microcephaly, central nervous system abnormalities resulting in severe intellectual disability, and nephrosis. A single novel homozygous frameshift variant c.888delT (p.Phe296Leufs*26) in the WDR73 gene has been identified as the pathogenic variant for Old Order Amish patients. This targeted test will specifically analyze the c.888delT variant.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 251300
MedGen: 1634188