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

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

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.

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.

• Informed Consent for Genetic Testing
• Hypertrophic Cardiomyopathy Multi-Gene Panel Prior Authorization Ordering Instructions
• Hereditary Cardiomyopathies and Arrhythmias: Patient Information
• Informed Consent for Genetic Testing (Spanish)

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and supplemental Sanger Sequencing