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Test ID: CPVTG Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies


Ordering Guidance


This test is intended for genetic screening for and diagnosis of catecholaminergic polymorphic ventricular tachycardia.

 

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

 

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. Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel (CPVTG) 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 catecholaminergic polymorphic ventricular tachycardia (CPVT)

 

Establishing a diagnosis of CPVT

Method Name

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

Reporting Name

CPVT Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic cardiac arrhythmia condition characterized by polymorphic and bidirectional ventricular tachycardia induced by physical or emotional stress. CPVT can result in or present with palpitations, syncope, sudden cardiac arrest, or sudden cardiac death. Symptoms typically present in childhood, however, if left untreated, there is an estimated 30% to 50% mortality rate by 40 years of age.(1)

 

CPVT has an estimated prevalence of 1:5000 to 1:10,000 and is caused by disease-causing variants in genes that encode proteins of the sacroplasmic reticulum calcium release complex.(1,2) It is estimated that six genes (RYR2, CASQ2, TRDN, CALM1, CALM2, CALM3) account for up to 75% of cases of CPVT, with gain-of-function variants in the RYR2 gene being the most common genetic etiology in patients with confirmed CPVT.(1) More recently, disease-causing variants in the TECRL gene have been associated with a mixed arrhythmia phenotype exhibiting characteristics of CPVT and long QT syndrome.(3)

 

CPVT can follow autosomal dominant and autosomal recessive patterns of inheritance. Genetic testing in CPVT is recommended to confirm the clinical diagnosis, assist with risk stratification, guide management, and identify at-risk family members.(4) Even individuals without overt symptoms of CPVT may still be at risk for a cardiac event and sudden cardiac death.(4)

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Wleklinski MJ, Kannankeril PJ, Knollmann BC: Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia. J Physiol. 2020 Jul;598(14):2817-2834. doi: 10.1113/JP276757

2. Kim CW, Aronow WS, Dutta T, Frenkel D, Frishman WH: Catecholaminergic polymorphic ventricular tachycardia. Cardiol Rev. Nov/Dec 2020;28(6):325-331. doi: 10.1097/CRD.0000000000000302

3. Webster G, Aburawi EH, Chaix MA, et al. Life-threatening arrhythmias with autosomal recessive TECRL variants. Europace. 2021 May;23(5):781-788. doi: 10.1093/europace/euaa376

4. Napolitano C, Priori SG, Bloise R, et al: Catecholaminergic polymorphic ventricular tachycardia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2004. Updated June 23, 2022. Accessed July 14, 2022. Available from: www.ncbi.nlm.nih.gov/books/NBK1289/

5. 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. doi: 10.1038/gim.2015.30.

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

81405

81408

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CPVTG CPVT Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
617212 Test Description 62364-5
617213 Specimen 31208-2
617214 Source 31208-2
617215 Result Summary 50397-9
617216 Result 82939-0
617217 Interpretation 69047-9
617218 Additional Results 82939-0
617219 Resources 99622-3
617220 Additional Information 48767-8
617221 Method 85069-3
617222 Genes Analyzed 48018-6
617223 Disclaimer 62364-5
617224 Released By 18771-6
Mayo Clinic Laboratories | Cardiology Catalog Additional Information:

multi-gene panel