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Test 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

Method Name

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

Reporting Name

Brugada Syndrome, SCN5A Full Gene

Specimen Type

Varies

Specimen 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.

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

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

NY State Approved

Yes