Test Catalog

Test ID: CCMGP    
Comprehensive Cardiomyopathy Multi-Gene Panel, Blood

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

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

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.

 

Prior Authorization is available for this assay; see Special Instructions.

Highlights

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.

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 followed by Polymerase Chain Reaction (PCR) and supplemental Sanger 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

Cardiomyopathy Genetic Panel, B

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

Cardiomyopathy
Dilated Cardiomyopathy (DCM)
Hypertrophic Cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Arrhythmogenic right ventricular dysplasia (ARVD)
Left ventricular non-compaction (LVNC)
HCM
DCM
ARVC
ARVD
LVNC
Cardiofaciocutaneous (CFC)
Costello Syndrome (CS)
LEOPARD Syndrome (LS)
Multiple Lentigines
Noonan Syndrome (NS)
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
TTR
VCL
Next Gen Sequencing Test