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Test ID: PMCMP    
Postmortem Cardiomyopathy Panel, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Highlights

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.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Postmortem Cardiomyopathy Panel

Aliases Lists additional common names for a test, as an aid in searching

ABCC9
ACTC1
ACTN2
ANKRD1
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Arrhythmogenic right ventricular dysplasia (ARVD)
ARVC
ARVD
BRAF
Cardiofaciocutaneous (CFC)
Cardiomyopathy
CAV3
CBL
Costello Syndrome (CS)
CRYAB
CSRP3
DCM
DES
Dilated Cardiomyopathy (DCM)
DSC2
DSG2
DSP
DTNA
GLA
HCM
HRAS
Hypertrophic Cardiomyopathy (HCM)
JUP
KRAS
LAMA4
LAMP2
LDB3
Left ventricular non-compaction (LVNC)
LEOPARD Syndrome (LS)
LMNA
LVNC
MAP2K1
MAP2K2
Multiple Lentigines
MYBPC3
MYH6
MYH7
MYL2
MYL3
MYLK2
MYOZ2
MYPN
NEXN
Next Gen Sequencing Test
Noonan Syndrome (NS)
NRAS
PKP2
PLN
PRKAG2
PTPN11
RAF1
RBM20
RYR2
SCN5A
SGCD
SHOC2
SOS1
TAZ
TCAP
TMEM43
TNNC1
TNNI3
TNNT2
TPM1
TTN
TTR
VCL
Formalin-fixed paraffin-embedded tissue
FFPE
Postmortem
Sudden cardiac arrest
Sudden cardiac death
Sudden unexplained death
Sudden death