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HelpTest ID: 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.
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
Special Instructions
- Informed Consent for Genetic Testing
- Hereditary Cardiomyopathies and Arrhythmias: Patient Information
- Informed Consent for Genetic Testing (Spanish)
- Targeted Genes and Methodology Details for Arrhythmogenic Cardiomyopathy Gene Panel
- Arrhythmogenic Cardiomyopathy Gene Panel (ARVGG) Prior Authorization Ordering Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Arrhythmogenic Cardiomyopathy PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
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)
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.
Clinical Reference
1. Towbin JA, McKenna WJ, Abrams DJ, et al: 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019 Nov;16(11):e301-e372. doi: 10.1016/j.hrthm.2019.05.007
2. Corrado D, Link MS, Calkins H: Arrhythmogenic right ventricular cardiomyopathy. N Engl J Med. 2017 Jan;376(1):61-72. doi: 10.1056/NEJMra1509267
3. Bonne G, Leturcq F, Ben Yaou R: Emery-Dreifuss Muscular Dystrophy. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2004. Updated August 15, 2019. Accessed July 14, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1436/
4. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424
Day(s) Performed
Varies
Report Available
28 to 42 daysTest 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 |
multi-gene panel