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HelpTest Code 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
Special Instructions
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 | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.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.
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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 |
Prior Authorization
Insurance preauthorization is available for this testing; forms are available.
Patient financial assistance may be available to those who qualify. Patients who receive a bill from Mayo Clinic Laboratories will receive information on eligibility and how to apply.