Test ID: PMCMP    
Postmortem Cardiomyopathy Panel, Varies

Providing a comprehensive postmortem genetic evaluation in the setting of sudden unexplained death or with a personal or family history suggestive of hereditary cardiomyopathy

Identification of a pathogenic variant in the decedent, which may assist with risk assessment and predictive testing of at-risk family members

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate the genes on this panel.

This test is intended for use on postmortem samples (eg; formalin-fixed, paraffin-embedded [FFPE] tissue block) when whole blood is not available.

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 (excluding Chr14[GRCh37]:g.23859675-23859246), MYH7 (Chr14[GRCh37]:g.23889034-23889463), 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 may aid in the postmortem diagnosis of hereditary cardiomyopathy. Identification of a pathogenic variant may assist with familial risk assessment, screening, and genetic counseling.

The following genomic regions are excluded due to lack of coverage by next-generation sequencing:

TTN gene: Chr2(GRCh37):g.179523879-179524002 and Chr2(GRCh37):g.179523712-179523835

MYH6 gene: Chr14(GRCh37):g.23859675-23859246

MYH7 gene: Chr14(GRCh37):g.23889034-23889463

• Informed Consent for Genetic Testing
• Hereditary Cardiomyopathies and Arrhythmias: Patient Information
• Informed Consent for Genetic Testing for Deceased Individuals
• Informed Consent for Genetic Testing (Spanish)

Custom Sequence Capture and Targeted Next-Generation Sequencing