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HelpTest 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
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
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 7 genes associated with catecholaminergic polymorphic ventricular tachycardia (CPVT): CALM1, CALM2, CALM3, CASQ2, RYR2, TECRL, and TRDN. See Targeted Genes and Methodology Details for Catecholaminergic Polymorphic Ventricular Tachycardia 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 CPVT.
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
CPVT Gene PanelSpecimen Type
VariesSpecimen 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 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
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 |
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