Cardiology

Comprehensive Cardiomyopathy Panel

Overview

Test Name

Test Code

CAE1006

Test Category

Gene Panels

Test Subcategory

Cardiology

Disease(s) Targeted

Cardiomyopathies

Who Is The Test For?

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

Test Approach

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

No. of Genes

122

Panel Content

ABCC9, ACTC1, ACTN2, ALPK3, BAG3, CACNA1C, CAV3, CDH2, COX15, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EPG5, EYA4, FHL1, FHOD3, FKTN, FLNC, FXN, GAA, GATAD1, GLA, HAMP, HCN4, HFE, HJV, IDH2, JPH2, JUP, NKX2-5, LAMA4, LAMP2, LDB3, LMNA, MIB1, 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, PKP2, PLN, PPCS, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SDHA, SGCD, SLC25A4, SLC40A1, SPEG, TAFAZZIN, TBX5, TCAP, TFR2, TGFB3, TMEM43, TNNC1, TNNI3, TNNI3K, 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.

*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 Cardiomyopathies

Cardiomyopathies are a heterogeneous group of cardiac muscle disorders that can affect the heart muscle, its development, size, shape and/or thickness. It is described as a myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.

One of the factors that differentiates clinical forms of cardiomyopathy is the underlying genetic cause.

This comprehensive panel includes genes associated with Left Ventricular Noncompaction Cardiomyopathy, Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy and conduction defects, Dilated and arrhythmogenic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, among other disorders.

All 37 mitochondrial genes are included in this panel.

Comprehensive Cardiomyopathy Panel

Overview

Test Name

Test Code

Test Category

Test Subcategory

Disease(s) Targeted

Who Is The Test For?

Test Approach

No. of Genes

Panel Content

Mitochondrial Genome Included In The Analysis

Deliverables

Turnaround Time

Specimen Requirements

About Cardiomyopathies

Gene Panel Workflow

Consent, Test Request, and Sample Collection

Data Generation

Bioinformatics and Analysis

Reporting