Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary arrhythmogenic right ventricular cardiomyopathy (ARVC or AC)
Establishing a diagnosis of ARVC or AC, and in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved
Identifying a pathogenic variant within a gene known to be associated with disease that allows for predictive testing of at-risk family members
This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate the genes tested on this panel.
Prior Authorization is available for this assay; see Special Instructions.
This test uses next-generation sequencing to test for variants in the DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR2, TMEM43, and TTN (excluding the following genomic regions: Chr2(GRCh37):g. 179523879-179524002 and Chr2(GRCh37):g. 179523712-179523835) genes.
Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.
