Comprehensive Cardiomyopathy Panel

Overview

Test Name
Comprehensive Cardiomyopathy Panel
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
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 pathologies of the heart which may affect its size, shape and/or thickness. Common cardiomyopathies include hypertrophic cardiomyopathy and dilated cardiomyopathy.


Cardiomyopathy is a clinically heterogenous disease, and one of the factors that differentiates clinical phenotypes is genotype.

Gene Panel Workflow

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