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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
3113 SCN5A 81407 81407,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3113SCN5A81407 81407, 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

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).

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.

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).

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.

Gene

Official Gene Symbol OMIM ID
SCN5A 600163
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

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Comprehensive Cardiac Arrhythmia Panel
Comprehensive Cardiology Panel
Familial Atrial Fibrillation Syndrome Panel
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Pan Cardiomyopathy Panel
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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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

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2) Select Additional Test Options

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