Brugada Syndrome 1 via the SCN5A Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 3113 | SCN5A | 81407 | 81407,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Clinical Features
Brugada syndrome 1 is a cardiac channelopathy characterized by arrhythmia, syncope, nocturnal agonal respiration, sudden death, and abnormal electrocardiographic findings consisting of right precordial ST-segment elevation in the absence of structural cardiac abnormalities. Several drugs have been reported to cause these electrocardiographic abnormalities in patients with Brugada syndrome (see www.brugadadrugs.org). Symptoms usually manifest during adulthood, but they may appear any time between two days and 80 years of age (Antzelevitch Circ Res 91:1114-1118, 2002). The prevalence of Brugada syndrome varies among ethnic groups and is highest in populations from Southeast Asia.
Genetics
Brugada syndrome is a genetically heterogeneous disease that is usually inherited in an autosomal dominant manner. Variants in the gene SCN5A represent the most common cause of Brugada syndrome (Chen et al. Nature 392: 293–296, 1998; Kapplinger et al. Heart Rhythm 7:33-46, 2010). SCN5A causative variants have been reported in patients from various ethnic groups. SCN5A variants are distributed along the entire coding region of the gene and include missense, nonsense, frameshift, and splicing variants. Most variants occurred in familial cases, although de novo variants have also been reported (Rook et al. Cardiovasc Res 44:507-517, 1999; Brugada et al., 2009). In addition to Brugada syndrome, heterozygous SCN5A variants have been identified in patients with long QT syndrome 3 (LQT3) (Wang et al. Cell 80:805-811, 1995) and patients with progressive familial heart block, type 1A (PFHB1A) (Schott et al. Nat Genet 23: 20–21, 1999). Also, several compound heterozygous SCN5A variants have been reported in patients with autosomal recessive sick sinus syndrome 1 (SSS1) (Benson et al. J Clin Invest 112:1019-1028, 2003).
Clinical Sensitivity - Sequencing with CNV PG-Select
This test will detect variants in ~ 21% of patients with Brugada syndrome and 5-10% of patients with Long QT syndrome (Kapplinger et al. Heart Rhythm 7:33-46, 2010; Ackerman et al. Europace 13:1077-1109, 2011).
Testing Strategy
This test provides full coverage of all coding exons of the SCN5A gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
All patients with symptoms suggestive of Brugada syndrome, LQT3 syndrome, PFHB1A, and autosomal recessive, congenital SSS1 are candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SCN5A.
All patients with symptoms suggestive of Brugada syndrome, LQT3 syndrome, PFHB1A, and autosomal recessive, congenital SSS1 are candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SCN5A.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| SCN5A | 600163 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Brugada Syndrome 1 | AD | 601144 |
| Long QT Syndrome 3 | AD | 603830 |
| Progressive Familial Heart Block Type 1A | AD | 113900 |
| Sick Sinus Syndrome 1, Autosomal Recessive | AR | 608567 |
Related Tests
Citations
- Ackerman et al. 2011. PubMed ID: 21810866
- Antzelevitch C, Brugada P, Brugada J, Brugada R, Shimizu W, Gussak I, Perez Riera AR. 2002. Brugada Syndrome: A Decade of Progress. Circulation Research 91: 1114–1118. PubMed ID: 12480811
- Benson, D. W., et.al. (2003). "Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)." J Clin Invest 112(7): 1019-28. PubMed ID: 14523039
- Brugada, Ramon; Brugada, Pedro; Brugada, Josep; Hong, Ku (2009). "Brugada Syndrome."
- Chen, Q., et.al. (1998). "Genetic basis and molecular mechanism for idiopathic ventricular fibrillation." Nature 392(6673): 293-6. PubMed ID: 9521325
- Kapplinger JD. et al. 2010. Heart rhythm : the official journal of the Heart Rhythm Society. 7: 33-46. PubMed ID: 20129283
- Rook, M. B., et.al. (1999). "Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome." Cardiovasc Res 44(3): 507-17. PubMed ID: 10690282
- Schott, J. J., et.al. (1999). "Cardiac conduction defects associate with mutations in SCN5A." Nat Genet 23(1): 20-1. PubMed ID: 10471492
- Wang, Q., et.al. (1995). "SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome." Cell 80(5): 805-11. PubMed ID: 7889574
Ordering/Specimens
Ordering Options
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
Requisition Form
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.
For Requisition Forms, visit our Forms page
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
Loading...
×
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.