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Test ID: CARGG Comprehensive Arrhythmia Gene Panel, Varies


Ordering Guidance


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.

 

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.



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


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.

Specimen Type: Whole blood

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. Comprehensive Arrhythmia Gene Panel (CARGG) 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 cardiac arrhythmia

 

Establishing a diagnosis of a hereditary form of cardiac arrhythmia

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 44 genes associated with hereditary forms of cardiac arrhythmias: ABCC9, ANK2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, DES, DSC2, DSG2, DSP, EMD, FLNC, GNB5, HCN4, JUP, KCND2, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN5A, SLC4A3, TECRL, TMEM43, TNNI3K, TRDN, and TTN. See Targeted Genes and Methodology Details for Comprehensive Arrhythmia 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 cardiac arrhythmias.

 

Prior Authorization is available for this assay.

Reporting Name

Comprehensive Arrhythmia Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Cardiac arrhythmias are a group of conditions characterized by abnormal heart rhythms. Arrhythmias can be caused by either genetic (inherited) factors or nongenetic (acquired) causes such as medications and infection. Hereditary forms of cardiac arrhythmias assessed for on this panel include, but are not limited to, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome, arrhythmogenic right ventricular cardiomyopathy, and familial atrial fibrillation.(1) This panel also assesses genes associated with rarer, syndromic conditions in which cardiac arrhythmia is a major feature, such as Andersen-Tawil syndrome, Carvajal syndrome, Jervell and Lange-Nielsen syndrome, Naxos disease, Timothy syndrome, and Emery-Dreifuss muscular dystrophy.(1-3)

 

Inherited cardiac arrhythmias can follow autosomal dominant, autosomal recessive, X-linked, and digenic patterns of inheritance. Genes associated with mitochondrial inheritance of cardiac arrhythmias are not assessed on this panel.

Reference Values

An interpretive report will be provided

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics (ACMG) 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. Schwartz PJ, Ackerman MJ, Antzelevitch C, et al: Inherited cardiac arrhythmias. Nat Rev Dis Primers. 2020 Jul 16;6(1):58. doi: 10.1038/s41572-020-0188-7

2. Ackerman MJ, Priori SG, Willems S, et al: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm. 2011 Aug;8(8):1308-1339. doi: 10.1016/j.hrthm.2011.05.020

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 days

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

81413

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CARGG Comprehensive Arrhythmia Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
617170 Test Description 62364-5
617171 Specimen 31208-2
617172 Source 31208-2
617173 Result Summary 50397-9
617174 Result 82939-0
617175 Interpretation 69047-9
617176 Additional Results 82939-0
617177 Resources 99622-3
617178 Additional Information 48767-8
617179 Method 85069-3
617180 Genes Analyzed 48018-6
617181 Disclaimer 62364-5
617182 Released By 18771-6
Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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