MAST Syndrome (SPG21) Targeted Testing

AKA: Autosomal Recessive Spastic Paraplegia-21
Short Name: SPG21 Targeted

MAST syndrome is an autosomal recessive condition caused by a pathogenic variant in the ACP33 gene. Progressive spastic paraparesis is associated with cognitive decline, dementia, and other neurologic abnormalities. The disorder is progressive with variable severity and onset typically occurs in adulthood. MAST syndrome occurs with high frequency in the Old Order Amish and the c.601dupA (p.Thr201Asnfs) variant has been reported in the population. The c.601dupA variant is specifically analyzed in this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 248900
MedGen: 343325