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Test ID DCMGP Dilated Cardiomyopathy Multi-Gene Panel, Blood

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary dilated cardiomyopathy (DCM)

 

Establishing a diagnosis of a hereditary DCM, and in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

 

Identification of a pathogenic variant within a gene known to be associated with disease features that allows for predictive testing of at-risk family members

Method Name

Custom Sequence Capture and Targeted Next Generation Sequencing followed by Polymerase Chain Reaction (PCR) and supplemental Sanger sequencing

Reporting Name

Dilated Cardiomyopathy Panel, B

Specimen Type

Whole Blood EDTA

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions: Send specimen in original tube.

Additional Information:

1. Include physician name and phone number with the specimen.

2. Prior Authorization is available for this test. Submit the required form with the specimen.

Forms:

1. Hereditary Cardiomyopathies and Arrhythmias: Patient Information Sheet (T725) is required. See Special Instructions.

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

3. Dilated Cardiomyopathy Multi-Gene Panel Prior Authorization Ordering Instructions in Special Instructions

4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/cardiovascular-request-form.pdf).

Specimen Minimum Volume

0.6 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Ambient (preferred)
  Refrigerated 

Clinical Information

The cardiomyopathies are a group of disorders characterized by disease of the heart muscle. Cardiomyopathy can be caused by inherited, genetic factors, or by nongenetic (acquired) causes such as infection or trauma. When the presence or severity of the cardiomyopathy observed in a patient cannot be explained by acquired causes, genetic testing for the inherited forms of cardiomyopathy may be considered. Overall, the cardiomyopathies are some of the most common genetic disorders. The inherited forms of cardiomyopathy include hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and left ventricular noncompaction (LVNC).

 

DCM is established by the presence of left ventricular enlargement and systolic dysfunction. DCM may present with heart failure with symptoms of congestion, arrhythmias, and conduction system disease, or thromboembolic disease (stroke). The most recent estimates of the incidence of DCM suggest that the condition affects approximately 1 in every 250 people. These estimates are higher than originally reported due to subclinical phenotypes and underdiagnosis. After exclusion of nongenetic causes such as ischemic injury, DCM is traditionally referred to as "idiopathic" dilated cardiomyopathy. Approximately 20% to 50% of individuals with idiopathic DCM may have an identifiable genetic cause for their disease. Families with 2 or more affected individuals are diagnosed with familial dilated cardiomyopathy. 

 

The majority of familial dilated cardiomyopathy is inherited in an autosomal dominant manner; however, autosomal recessive and X-linked forms have also been reported. At least 28 genes have been reported in association with DCM, including genes encoding the cardiac sarcomere and other proteins involved in proteins responsible for cardiac muscle contraction. Some genes associated with DCM also cause other forms of hereditary cardiomyopathy, cardiac channelopathies, skeletal myopathies, or metabolic defects. See table for details regarding the genes tested by this panel and associated diseases.

 

Genes included in the Dilated Cardiomyopathy Multi-Gene Panel

Gene

Protein

Inheritance

Disease Association

ABCC9

ATP-Binding cassette, subfamily C, member 9

AD

DCM, Cantu syndrome

ACTC1

Actin, alpha, cardiac muscle

AD

CHD, DCM, HCM, LVNC

ACTN2

Actinin, alpha-2

AD

DCM, HCM

ANKRD1

Ankyrin repeat domain-containing protein 1

AD

HCM, DCM

CRYAB

Crystallin, alpha-B

AD, AR

DCM, myofibrillar myopathy

CSRP3

Cysteine-and glycine-rich

protein 3

AD

HCM, DCM

DES

 

 

 

Desmin

AD, AR

DCM, ARVC, myofibrillar myopathy, RCM with AV block, Neurogenic Scapuloperoneal Syndrome Kaeser Type, LGMD

LAMA4

Laminin, alpha-4

AD

DCM

LAMP2

Lysosome-associated membrane protein 2

X-linked

Danon disease

LDB3

LIM domain-binding 3

AD

DCM, LVNC, myofibrillar myopathy

LMNA

Lamin A/C

AD, AR

DCM, EMD, LGMD, congenital muscular dystrophy (see OMIM for full listing)

MYBPC3

Myosin-binding protein-C, cardiac

AD

HCM, DCM

MYH6

Myosin, heavy chain 6, cardiac muscle, alpha

 

HCM, DCM

MYH7

Myosin, heavy chain 7, cardiac muscle, beta

AD

HCM, DCM, LVNC, myopathy

MYPN

Myopalladin

AD

HCM, DCM

NEXN

Nexilin

AD

HCM, DCM

PLN

Phospholamban

AD

HCM, DCM

RAF1

V-raf-1 murine leukemia viral oncogene homolog 1

AD

Noonan/LEOPARD syndrome, DCM

RBM20

RNA-binding motif protein 20

AD

DCM

SCN5A

Sodium channel, voltage gated, type V, alpha subunit

AD

Brugada syndrome, DCM, Heart block, LQTS, SSS, SIDS

SGCD

Sarcoglycan, delta

AD, AR

DCM, LGMD

TAZ

Tafazzin

X-linked

Barth syndrome, LVNC, DCM

TCAP

Titin-CAP (Telethonin)

AD, AR

HCM, DCM, LGMD

TNNC1

Troponin C, slow

AD

HCM, DCM

TNNI3

Troponin I, cardiac

AD, AR

DCM, HCM, RCM

TNNT2

Troponin T2, cardiac

AD

HCM, DCM, RCM, LVNC

TPM1

Tropomyosin 1

AD

HCM, DCM, LVNC

TTN

Titin

AD, AR

HCM, DCM, ARVC myopathy

TTR

Transthyretin

AD

Transthyretin-related amyloidosis

VCL

Vinculin

AD

HCM, DCM

Abbreviations: Hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), left ventricular noncompaction cardiomyopathy (LVNC), restrictive cardiomyopathy (RCM), limb-girdle muscular dystrophy (LGMD), Emory muscular dystrophy (EMD), congenital heart defects (CHD), sudden infant death syndrome (SIDS), long QT syndrome (LQTS), sick sinus syndrome (SSS), autosomal dominant (AD), autosomal recessive (AR)

Reference Values

An interpretive report will be provided. 

Cautions

Clinical Correlations:

Some individuals who have involvement of 1 or more of the genes on the panel may have a variant that is not identified by the methods performed (eg, promoter variants, deep intronic variants). The absence of a variant, therefore, does not eliminate the possibility of a hereditary dilated cardiomyopathy or a related disorder.

 

Test results should be interpreted in context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

 

If testing was performed because of a family history of hereditary dilated cardiomyopathy or a related disorder, it is often useful to first test an affected family member. Identification of a pathogenic variant in an affected individual allows for more informative testing of at-risk individuals.

 

Technical Limitations:

Next generation sequencing may not detect all types of genetic variants. Additionally, rare polymorphisms may be present that could lead to false-negative or false-positive results. If results do not match clinical findings, consider alternative methods for analyzing these genes, such as Sanger sequencing or large deletion/duplication analysis. If the patient has had an allogeneic blood or marrow transplant or a recent (ie, less than 6 weeks from time of sample collection) heterologous blood transfusion, results may be inaccurate due to the presence of donor DNA.

 

Reclassification of Variants Policy:

At this time, it is not standard practice for the laboratory to systematically review likely pathogenic variants or variants of uncertain significance that are detected and reported. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.

 

Contact the laboratory if additional information is required regarding the transcript or human genome assembly used for the analysis of this patient’s results.

Day(s) Performed

Wednesday; Varies

Report Available

4 weeks after prior authorization approved

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479 ABCC9, ACTN2, CRYAB, CSRP3, LAMA4, MYPN, NEXN, RBM20, TCAP, TTN, and VCL

81405 x 8 ACTC1, ANKRD1, DES, LAMP2, SGCD, TNNC1, TNNI3, TPMI

 

81406 x 5 LDB3, LMNA, RAF1, TAZ, TNNT2

81407 x 4 MYBPC3, MYH6, MYH7, SCN5A

 

81403 PLN

81404 TTR

NY State Approved

Conditional

Prior Authorization

Insurance preauthorization is available for this testing; forms are available in Special Instructions.

 

Patient financial assistance may be available to those who qualify. Patients who receive a bill from Mayo Medical Laboratories will receive information on eligibility and how to apply.