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Dilated Cardiomyopathy (DCM)

+ Mutation-specific testing + Prenatal testing

Dilated cardiomyopathy (DCM) usually presents with one or more of the following; i) heart failure with symptoms of congestion (edema, orthopnea or paroxysmal dyspnea); ii) reduced cardiac output, such as fatigue or dyspnea on exertion; arrhythmias and/or conduction system disease; iii) thromboembolic disease, mainly from left ventricular mural thrombus, including stroke. However, individuals with DCM may also be asymptomatic. The diagnosis of DCM is established by the finding of both left ventricular enlargement and systolic dysfunction, primarily determined by echocardiogram to measure cardiac chamber dimensions, ventricular thickness and ejection fraction.

The prevalence of idiopathic DCM in the general population is at least 1/2,700. Dilated cardiomyopathy is due to inherited (genetic) or acquired (environmental or non-genetic) causes. DCM is most commonly due to acquired causes, such as ischemic injury from myocardial infarction, secondary to underlying coronary artery disease, or a variety of other
insults or inflammatory conditions that cause damage to the myocardium. Hereditary DCM is characterized by left ventricular enlargement and systolic dysfunction, or a reduction in the myocardial force of contraction, in the absence of other cardiac, systemic or environmental causes. It is thought that approximately 20-50% of idiopathic DCM cases have a genetic basis.

+ Mutation-specific testing + Prenatal testing

Tests Available

DCM/LVNC Sequencing Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:

ACTC (ACTC1), ACTN2, ANKRD1, CSRP3, DES, EMD, LAMP2, LDB3 (ZASP), LMNA, MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Clinical Utility:

Confirmation of a clinical diagnosis in symptomatic patients
Risk assessment of asymptomatic family members of a proband with DCM/LVNC
Differentiation of hereditary DCM from acquired (non-genetic) causes of DCM/LVNC
Recurrence risk calculation

Lab Method:

Next-gen Sequencing

ORDERING

Test Code:: 635
Turnaround Time:: 8-10 weeks
Preferred Specimen:: 2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81403x1, 81405x1, 81406x1, 84311x1

Billing Information:

View Cardiology Billing Policy

ICD Codes:

425.8: Cardiomyopathy in other diseases classified elsewhere; Code first underlying disease, as: Friedreich's ataxia (334.0), myotonia atrophica (359.21), progressive muscular dystrophy (359.1), sarcoidosis (135)
425.7: Nutritional and metabolic cardiomyopathy; Code first underlying disease, as: amyloidosis (277.30-277.39), beriberi (265.0), cardiac glycogenosis (271.0), mucopolysaccharidosis (277.5), thyrotoxicosis (242.0-242.9)
425.4: Other primary cardiomyopathies, Cardiomyopathy: NOS congestive constrictive familial hypertrophic, idiopathic, nonobstructive, obstructive, restrictive; Cardiovascular collagenosis
V18.9: Genetic disease carrier

REFERENCES

Callis TE et al. Expert Rev. Mol. Diagn. 2010; 10(3), 329–351. (PubMed: 20370590)
Hunt SA et al. Circulation. 2005; 112(12):e154-235. (PubMed: 16160202)
Human gene mutation database (HGMD) www.hgmd.cf.ac.uk/ac/index.php
Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
Bennett S. Pharmacogenomics. 2004;5(4):433-8 (PubMed: 15165179)
Hershberger RE, Kushner JD, Parks SB. Dilated Cardiomyopathy Overview. GeneReviews. 2008. www.genetests.org