Dilated Cardiomyopathy
NGS panel

Genes
(full
coding region):		 ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CRYAB, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FLNC, GATAD1, JPH2, JUP, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYPN, NEBL, NEXN, NKX2-5, OBSCN, PRDM16, PKP2, PLN, PSEN2, RAF1, RBM20, SCN5A, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: BAG3, TNNT2
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Differential diagnosis
3. Testing for at-risk family members
4. Genetic counseling

Dilated cardiomyopathy (DCM) is a progressive disease of heart muscle that is characterized by left ventricular enlargement and systolic dysfunction. Persons with DCM may be asymptomatic for a number of years. Complications usually occur later in the disease course and may include heart failure, arrhythmias, thromboembolic disease.

The disease initially manifests in adults in the fourth to sixth decade, it may also present at any age.

DCM can be categorized as acquired, syndromic, or nonsyndromic. DCM can be inherited in an autosomal dominant or X-linked manner. Most cases are inherited in an autosomal dominant manner.

References:
Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. GeneReviews® Initial Posting: July 27, 2007; Last Update: August 23, 2018.
Judge, D. P. 2009. Use of Genetics in the Clinical Evaluation of Cardiomyopathy. JAMA, 302(22), 2471.doi:10.1001/jama.2009.1787