Hypertrophic Cardiomyopathy Panel, Sequencing

Casandra

Casandra Test Code AR94212Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001579CPT Code 81439

Hypertrophic Cardiomyopathy Panel, Sequencing

Also known as: HCM NGS

Clinical Use

Order Test

Use

The Hypertrophic Cardiomyopathy Panel is used to determine the etiology of hypertrophic cardiomyopathy (HCM) in symptomatic individuals. It is also valuable for presymptomatic testing in individuals with a family history of HCM or sudden cardiac death. HCM is a genetically heterogeneous disorder characterized by unexplained left ventricular hypertrophy, which can lead to arrhythmias, obstruction, heart failure, and sudden cardiac death. This test contributes to identifying pathogenic variants in relevant genes that could be responsible for the condition.

Special Instructions

Informed consent for genetic testing is required for New York patients. Specimens from New York clients will be sent out to a New York state-approved laboratory. It is recommended to consider cardiology and genetic consultations for optimal management and interpretation of results.

Limitations

The test detects variants only within the coding regions and intron-exon boundaries of the targeted genes. It does not interrogate mitochondrial genes, regulatory region variants, large deletions/duplications/inversions, and deep intronic variants. This assay may not detect low-level mosaic or somatic variants. Interpretation of results may be impacted if the patient has had allogeneic stem cell transplantation. Certain exon(s) in BRAF, FLNC, and PRKAG2 genes are not sequenced due to technical limitations, and mitochondrial genes are not covered.

Test Details

Methodology

NGS (Targeted)

Biomarkers

Mutation (34 genes)

ACTC1ACTN2AGLALPK3BRAFCACNA1CCSRP3DESFHL1FLNCGAAGLAHRASJPH2KRASLAMP2MAP2K1MAP2K2MYBPC3MYH7MYL2MYL3NRASPLNPRKAG2PTPN11RAF1RIT1SOS1TNNC1TNNI3TNNT2TPM1TTR