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

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 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.