Dilated Cardiomyopathy 1G (TTN) Targeted Testing

Short Name: TTN Targeted

Dilated cardiomyopathy-1G, caused by pathogenic variants in the TTN gene, is an autosomal dominant disorder characterized by ventricular dilation and systolic contractile dysfunction. Most patients have had cardiac arrhythmias including atrial fibrillation, and nonsustained ventricular tachycardia. Patients also experience cardiac conduction defects including first-degree atrioventricular block, right and left bundle branch blocks, and left anterior fascicular block. The nonsense variant, c.59693G>A (p.Trp19898*), has been identified in Amish populations and is specifically analyzed by this test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 604145
MedGen: 347714