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
82
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
Turnaround Time

~3-6 weeks*

Specimen Requirements

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

Alternative Panels Available
*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.

Gene Panel Workflow

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