Brugada Syndrome, SCN5A Full Gene Analysis, Varies
Use
The Brugada Syndrome, SCN5A Full Gene Analysis provides a genetic evaluation for patients with a personal or family history suggestive of Brugada syndrome. It helps establish a diagnosis of Brugada syndrome by detecting single nucleotide and copy number variants in the SCN5A gene. Identification of a disease-causing variant can assist in diagnosis, prognosis, clinical management, familial screening, and genetic counseling for Brugada syndrome.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all genomic variants. There are technical limitations related to regions of homology, high guanine-cytosine content, and repetitive sequences, which could cause certain regions to be unevaluable. The sensitivity is above 99% for single nucleotide variants, but insertions and deletions over certain lengths may not be as reliably detected. Negative results do not rule out the genetic disorder, and other methods could be considered for suspicious clinical disorders not confirmed by this test. Low levels of mosaicism or differentiation between somatic and germline variants may not be detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
SCN5A
Gene
LOINC Codes
- 55139-0 - SCN5A gene Mut Anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Patient Preparation
A previous bone marrow transplant from an allogeneic donor will interfere with testing. For instructions, call 800-533-1710.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |