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HelpTest ID: SCN5A Brugada Syndrome, SCN5A Full Gene Analysis, Varies
Ordering Guidance
This single gene test is intended for genetic screening for and diagnosis of Brugada syndrome.
For comprehensive inherited cardiac arrhythmia genetic testing, order CARGG / Comprehensive Arrhythmia Gene Panel, Varies.
Testing for SCN5A as part of a customized panel is 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 variants identified in the SCN5A gene. 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 (T725)
3. If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen.
4. Brugada Syndrome Test (SCN5A) Prior Authorization Ordering Instructions
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of Brugada syndrome
Establishing a diagnosis of Brugada syndrome
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in one gene associated with Brugada syndrome: SCN5A. See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for Brugada syndrome.
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
Brugada Syndrome, SCN5A Full GeneSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Brugada syndrome (BrS) is a genetic cardiac disorder characterized by ST segment elevation in leads V1-V2 on electrocardiography (ECG) occurring spontaneously or after administration of sodium-channel blockers.(1) BrS leads to a high risk for ventricular arrhythmias, which can result in sudden cardiac arrest and sudden cardiac death including sudden unexpected nocturnal death syndrome and sudden infant death syndrome.(2) The diagnosis of BrS is established based on the characteristic ECG abnormality along with personal and family health history and requires exclusion of other causes including cardiac structural abnormalities, medications, and electrolyte imbalances.(2)
BrS has an estimated prevalence of 1:2000 to 1:5000.(1) Currently, BrS is definitively associated with gain-of-function variants in the SCN5A gene(3) and the condition follows an autosomal dominant pattern of inheritance. Approximately 20% of individuals meeting clinical diagnostic criteria for BrS are found to carry a causative variant in the SCN5A gene.(3) While variants in other genes have been reported in association with BrS, current evidence is not sufficient to define the role of these genes in BrS.(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.
Clinical Reference
1. Brugada J, Campuzano O, Arbelo E, Sarquella-Brugada G, Brugada R. Present status of Brugada syndrome: JACC state-of-the-art review. J Am Coll Cardiol. 2018;72(9):1046-1059. doi: 10.1016/j.jacc.2018.06.037
2. Brugada R, Campuzano O, Sarquella-Brugada G, Brugada P, Brugada J, Hong K:. Brugada syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2005. Updated November 17, 2016. Accessed August 01, 2022. Available from: www.ncbi.nlm.nih.gov/books/NBK1517/
3. 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
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
81407
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| SCN5A | Brugada Syndrome, SCN5A Full Gene | 55139-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617450 | Test Description | 62364-5 |
| 617451 | Specimen | 31208-2 |
| 617452 | Source | 31208-2 |
| 617453 | Result Summary | 50397-9 |
| 617454 | Result | 82939-0 |
| 617455 | Interpretation | 69047-9 |
| 617456 | Additional Results | 82939-0 |
| 617457 | Resources | 99622-3 |
| 617458 | Additional Information | 48767-8 |
| 617459 | Method | 85069-3 |
| 617460 | Genes Analyzed | 48018-6 |
| 617461 | Disclaimer | 62364-5 |
| 617462 | Released By | 18771-6 |
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