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Test Code ARVGG Arrhythmogenic Cardiomyopathy Gene Panel, Varies


Ordering Guidance


This test is intended for genetic screening for and diagnosis of arrhythmogenic cardiomyopathy.

 

For comprehensive inherited cardiac arrhythmia genetic testing, order CARGG / Comprehensive Arrhythmia Gene Panel, Varies.

 

For comprehensive cardiomyopathy genetic testing, order CCMGG / Comprehensive Cardiomyopathy Gene Panel, Varies.

 

For comprehensive cardiac arrhythmia and cardiomyopathy testing, order CACMG / Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Necessary Information


Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.



Specimen Required


Specimen Type: Whole blood

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Hereditary Cardiomyopathies and Arrhythmias: Patient Information

3. Arrhythmogenic Cardiomyopathy Gene Panel (ARVGG) Prior Authorization Ordering Instructions

4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.

Secondary ID

617127

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of arrhythmogenic cardiomyopathy

 

Establishing a diagnosis of a hereditary form of arrhythmogenic cardiomyopathy

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 18 genes associated with hereditary forms of arrhythmogenic cardiomyopathy: CDH2, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LMNA, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, TMEM43, and TTN. See Targeted Genes and Methodology Details for Arrhythmogenic Cardiomyopathy Gene Panel and Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary forms of arrhythmogenic cardiomyopathy.

 

Prior Authorization is available for this assay.

Method Name

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

Reporting Name

Arrhythmogenic Cardiomyopathy Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

The cardiomyopathies are a group of disorders characterized by disease of the heart muscle. Cardiomyopathy can be caused by either inherited, genetic factors or by nongenetic (acquired) causes such as infection or inflammation.(1)

 

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.

 

Arrhythmogenic cardiomyopathy (ACM) is characterized by the presence of arrhythmogenic cardiac muscle in the absence of ischemic, hypertensive, or valvular cardiac disease. Arrhythmogenic right ventricular cardiomyopathy (ARVC), the most well-defined form of ACM, is characterized by breakdown of the myocardium and replacement of right ventricular muscle tissue with fibrofatty tissue, resulting in an increased risk of arrhythmia and sudden death. In some cases, there may also be left ventricular involvement. The prevalence of ARVC (genetic and acquired) is estimated to be 1 in 2000 to 1 in 5000 in the general population.(2)

 

The clinical presentation of ACM can be variable, even within the same family. Overt symptoms such as palpitations, ventricular arrythmias, structural heart changes, and sudden cardiac arrest typically manifest in adulthood, but more subtle symptoms may be present in childhood.(2) Additionally, ACM may be apparently asymptomatic in some individuals, but can cause sudden, life-threatening arrhythmias, increasing the risk of sudden cardiac death.(1)

 

Hereditary forms of ACM primarily follow an autosomal dominant pattern of inheritance. Rarely, ACM may be present as a feature of an autosomal recessive condition (eg, Naxos syndrome, Carvajal syndrome, or myofibrillar myopathy).(1) Cardiomyopathy in combination with cardiac arrhythmia is also common in the X-linked condition Emery-Dreifuss muscular dystrophy.(3)

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(4) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Day(s) Performed

Varies

Report Available

28 to 42 days

Specimen Retention Time

Whole blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

CPT Code Information

81439

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ARVGG Arrhythmogenic Cardiomyopathy Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
617128 Test Description 62364-5
617129 Specimen 31208-2
617130 Source 31208-2
617131 Result Summary 50397-9
617132 Result 82939-0
617133 Interpretation 69047-9
617134 Additional Results 82939-0
617135 Resources 99622-3
617136 Additional Information 48767-8
617137 Method 85069-3
617138 Genes Analyzed 48018-6
617139 Disclaimer 62364-5
617140 Released By 18771-6

Prior Authorization

Insurance preauthorization is available for this testing; forms are available.

 

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