Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide variants and deletions-insertions (delins) in 83 genes associated with hereditary forms of cardiomyopathy: ABCC9, ACAD9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CDH2, CPT2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, ELAC2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GLA, HCN4, HRAS, JPH2, JUP, KRAS, LAMP2, LMNA, LZTR1, MAP2K1, MAP2K2, MRAS, MTO1, MYBPC3, MYH7, MYL2, MYL3, MYLK3, MYPN, NEXN, NKX2-5, NRAS, PCCA, PCCB, PKP2, PLN, PPA2, PPCS, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SOS1, SOS2, TAZ (TAFAZZIN), TBX20, TCAP, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, and VCL. See Method Description for additional details.

Identification of a disease-causing variant may assist with familial risk assessment, screening, and genetic counseling for hereditary cardiomyopathies.