Hypertrophic Cardiomyopathy (HCM) - Expanded Panel

Overview

Test Name

Hypertrophic Cardiomyopathy (HCM) - Expanded Panel

Test Code

CAE1011

Test Category

Gene Panels

Test Subcategory

Cardiology

Disease(s) Targeted

Hypertrophic Cardiomyopathy

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of Hypertrophic Cardiomyopathy.

Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis

No. Of Genes

Panel Content

ABCC9, ACTC1, ACTN2, ALPK3, BAG3, CACNA1C, CAV3, COX15, CRYAB, CSRP3, DES, FHL1, FHOD3, FLNC, FXN, GAA, GLA, JPH2, LAMP2, LDB3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, RAF1, RIT1, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

Mitochondrial Genome Included In The Analysis

Yes

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

Alternative Panels Available

This is the expanded panel for Hypertrophic Cardiomyopathy (HCM). We also offer a core panel which includes 23 less genes (59 genes in total). See test details for the Hypertrophic Cardiomyopathy (HCM)- Core Panel.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM), is a disease that causes thickening (hypertrophy) of the heart muscle. The heart muscle cells enlarge more than they should, and scarring (fibrosis) often develops between the cells.

HCM is a genetically heterogeneous cardiac muscle disorder with a diverse natural history.

And important insights into the genetic landscape of HCM have enhanced understanding of the molecular pathogenesis, empowered gene-based diagnostic testing to identify at-risk individuals.