Amish Nemaline Myopathy (TNNT1) Targeted Testing

AKA: Nemaline Myopathy 5A, Chicken Breast Disease
Short Name: TNNT1 Targeted

The nemaline Myopathies are neuromuscular disorders characterized by muscle weakness and rod-shaped “nemaline” inclusions in skeletal muscle fibers. Nemaline Myopathy 5A, also known as Amish Nemaline Myopathy, is an autosomal recessive disorder common among the Old Order Amish. Symptom onset occurs soon after birth or in early infancy. The c.538G>T (p.Glu180*) variant in exon 11 of the TNNT1 gene is a population specific pathogenic variant found in the Amish population due to founder effect. This test will specifically analyze the c.538G>T variant.

CPT Code: 81403
Turn-Around Time: 1-2 Weeks
OMIM: 605355
MedGen: 344273