Cardiomyopathies

Clinical Indications

Consider testing for individuals with a clinical or imaging diagnosis of cardiomyopathy, unexplained thickening, enlargement, or weakening of the heart muscle, a family history of cardiomyopathy or sudden cardiac death, early onset atrial fibrillation, or a close relative with a known genetic variant associated with cardiomyopathy.

Scope / Genes Tested

ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CBL, CDH2, CPT2, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATA6, GLA, HAND1, HFE, HRAS, JPH2, JUP, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, NEXN, NF1, NKX2-5, NRAS, PKP2, PLN, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, SCN5A, SDHA, SGCD, SHOC2, SLC22A5, SOS1, SOS2, TAFAZZIN, TBX20, TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL

Test Details

• Specimen Source: Buccal (cheek) swab
• Sequencing Technology: Whole Exome Sequencing

Analytical Performance

This test detects >99.5% of described mutations in the targeted genes, including single nucleotide variants, small insertions and deletions, and multi-exon copy number changes.

Clinical Utility

A positive result can help determine sudden cardiac death risk, guide decisions about cardiac devices and medication choices, inform exercise recommendations, and identify specific treatable conditions such as Fabry disease or cardiac amyloidosis. Results also help identify family members who should be monitored.