Familial Arrhythmogenic Right Ventricular Dysplasia 8 (DSP) Targeted Testing

AKA: Dilated Cardiomyopathy with Arrhythmia

Short Name: DSP Targeted

Familial arrhythmogenic right ventricular dysplasia is caused by variants in the DSP gene. Arrhythmogenic right ventricular dysplasia is an autosomal dominant myocardial disorder characterized by progressive degeneration of the right ventricular myocardium. Patients may experience life-threatening cardiac arrhythmias and show depolarization, conduction, and repolarization defects on electrocardiography. The disease has a broad spectrum of clinical manifestations from a benign asymptomatic course to a malignant course with serious arrhythmias, heart failure, and sudden cardiac death. Two pathogenic variants in the DSP gene, c.699G>A (p.Trp233*) and c.3238G>A (p.Glu1080Lys) have been identified in the Amish population. This test will specifically analyze these two variants.

CPT Code: 81403

Turn-Around Time: 1-2 weeks