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Test ID: HCMGP    
Hypertrophic Cardiomyopathy Multi-Gene Panel, Blood

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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 hypertrophic cardiomyopathy (HCM)

 

Establishing a diagnosis of a hereditary HCM, 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 tested 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 ACTC1, ACTN2, ANKRD1, CAV3, CSRP3, DES, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, RAF1, TCAP, 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 exon 27 of the MYH7 gene.

 

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

Hypertrophic Cardiomyopathy Panel,B

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

Cardiomyopathy
Hypertrophic cardiomyopathy (HCM)
HCM
ACTC1
ACTN2
ANKRD1
CAV3
CSRP3
DES
GLA
LAMP2
MYBPC3
MYH7
MYL2
MYL3
MYLK2
MYOZ2
NEXN
PLN
PRKAG2
RAF1
TCAP
TNNC1
TNNI3
TNNT2
TPM1
TTN
TTR
VCL
Next Gen Sequencing Test