Dilated Cardiomyopathy (DCM) and Conduction Defects - Core Panel

Cardiology

Dilated Cardiomyopathy (DCM) and Conduction Defects - Core Panel

Overview

Test Name
Dilated Cardiomyopathy (DCM) and Conduction Defects - Core Panel
Test Code
CAE1007
Test Category
Gene Panels
Test Subcategory
Cardiology
Disease(s) Targeted
Dilated Cardiomyopathy (DCM) and Conduction Defects
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of Dilated Cardiomyopathy (DCM) and Conduction Defects.
Test Approach

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

No. of Genes
72
Panel Content
ABCC9, ACTC1, ACTN2, BAG3, CSRP3, DES, DMD, DSP, EPG5, EYA4, HAMP, HFE, HJV, IDH2, LMNA, 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, NEXN, PLN, PPP1R13L, RBM20, SCN5A, SGCD, SLC40A1, SPEG, TAFAZZIN, TCAP, TFR2, TNNC1, TNNI3, TNNT2, TPM1, TTN, 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 Dilated Cardiomyopathy (DCM) and Conduction Defects

Dilated cardiomyopathy (DCM) is one of the most common cause of heart failure; it is estimated that DCM prevalence may be as high as 1:250-400. The diagnosis of dilated cardiomyopathy is established when both of the following are present: Left ventricular enlargement (enlargement is most commonly assessed in adults by either echocardiography or cardiac MRI) and Systolic dysfunction, a reduction in the myocardial force of contraction. 

Dilated cardiomyopathy is a clinically heterogenous disease, and one of the factors that differentiates clinical phenotypes is genotype. Truncating variants in TTN gene are identified in around 20% of the cases of dilated cardiomyopathies.

Conduction defects refer to abnormalities in the electrical conduction system of the heart, which is responsible for coordinating the heart's rhythm and ensuring that the heart muscles contract in a synchronised manner to effectively pump blood. These defects can lead to irregular heartbeats, slow heart rates, or even heart block.

All 37 mitochondrial genes are included in this panel.

Gene Panel Workflow

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