Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary cardiomyopathy
Establishing a diagnosis of a hereditary cardiomyopathy 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 uses next-generation sequencing to test for variants in the ABCC9, ACTC1, ACTN2, ANKRD1, BRAF, CAV3, CBL, CRYAB, CSRP3, DES, DSC2, DSG2, DSP, DTNA, GLA, HRAS, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, NRAS, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, SHOC2, SOS1, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN (excluding the following genomic regions: Chr2(GRCh37):g. 179523879-179524002 and Chr2(GRCh37):g. 179523712-179523835), TTR, and VCL genes.
This test uses Sanger sequencing to test for variants in certain exons of the following genes:
MYH6 exon 26
MYH7 exon 27
Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.
