Brugada Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10329 CACNA1C 81479,81479 Order Options and Pricing
CACNA2D1 81479,81479
CACNB2 81406,81479
GPD1L 81479,81479
HCN4 81479,81479
KCND3 81479,81479
KCNE3 81479,81479
KCNE5 81479,81479
KCNJ8 81479,81479
RANGRF 81479,81479
SCN1B 81404,81479
SCN2B 81479,81479
SCN3B 81479,81479
SCN5A 81407,81479
SLMAP 81479,81479
TRPM4 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10329Genes x (16)81479 81404, 81406, 81407, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click 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 (BrS) is a potentially life-threating cardiac arrhythmia disorder without structural abnormalities, characterized by dizziness, syncope, nocturnal agonal respiration and sudden death. The classic electrocardiographic findings associated with Brugada Syndrome include ST segment elevation in leads V1 to V3, right bundle branch block, first degree AV block, and intraventricular conduction delay. Brugada syndrome is much more common in men than in women, and many people who have Brugada syndrome don't have symptoms. Symptoms usually manifest during adulthood, but they may appear any time between two days and 80 years of age (Antzelevitch et al. 2005). Brugada syndrome is treatable with preventive measures such as reducing fever, avoiding certain medications and using an implantable cardiac defibrillator (Francis et al. 2005).

Genetics

Brugada syndrome is an autosomal dominant or X-linked dominant genetic disorder with variable expression, resulting from pathogenic variants within genes that encode cardiac ion channels. BrS is also referred to as a “cardiac channelopathy.” Pathogenic variants in 16 genes (CACNA1C, CACNB2, CACNA2D1, GPD1L, KCND3, KCNE3, KCNE5, KCNJ8, HCN4, RANGRF, SCN5A, SCN1B, SCN2B, SCN3B, SLMAP, and TRPM4) influencing sodium and calcium currents in the heart are associated with BrS and account for at least 26%-41% of cases (Kapplinger et al 2010; Crotti et al. 2012). Most patients with Brugada syndrome have inherited a disease-causing variant from a parent, as de novo pathogenic variants in BrS are rare (Hedley et al. 2009). See individual gene test descriptions for information on molecular biology of gene products, and spectra of pathogenic variants.

Testing Strategy

This panel typically provides ≥98% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in SCN5A cause 15%-30% of Brugada syndrome cases based on clinical diagnosis. Pathogenic variants within other genes associated with Brugada syndrome (GPD1L, CACNA1C, CACNB2B, SCN1B, SCN3B, KCNE3,KCNJ8, KCND3,CACNA2D1, MOG1, and HCN4) have been identified in a total of approximately 5% of patients (Kapplinger et al 2010; Crotti et al. 2012). KCNE5, SCN2B, SLMAP and TRPM4 are newly identified genes associated with Brugada syndrome. There is insufficient data to calculate their clinical sensitivities.

Gross deletions or duplications not detectable by Sanger sequencing have been reported in CACNB2, CACNA2D1 and SCN5A as individual cases, but no statistical data is available yet (Human Gene Mutation Database). To date, no gross deletions or duplications have been reported in CACNA1C, GPD1L, KCND3, KCNE3, KCNE1L (KCNE5), KCNJ8, HCN4, RANGRF, SCN1B, SCN2B, SCN3B, SLMAP and TRPM4 (Human Gene Mutation Database).

Indications for Test

All patients with symptoms suggestive of Brugada syndrome are candidates for this test.

Genes

Official Gene Symbol OMIM ID
CACNA1C 114205
CACNA2D1 114204
CACNB2 600003
GPD1L 611778
HCN4 605206
KCND3 605411
KCNE3 604433
KCNE5 300328
KCNJ8 600935
RANGRF 607954
SCN1B 600235
SCN2B 601327
SCN3B 608214
SCN5A 600163
SLMAP 602701
TRPM4 606936
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Antzelevitch C. et al. 2005. Circulation. 111: 659-70. PubMed ID: 15655131
  • Crotti L. et al. 2012. Journal of the American College of Cardiology. 60: 1410-8. PubMed ID: 22840528
  • Francis J., Antzelevitch C. 2005. International journal of cardiology. 101: 173-8. PubMed ID: 15882659
  • Hedley PL. et al. 2009. Human mutation. 30: 1256-66. PubMed ID: 19606473
  • Human Gene Mutation Database (Bio-base).
  • Kapplinger JD. et al. 2010. Heart rhythm : the official journal of the Heart Rhythm Society. 7: 33-46. PubMed ID: 20129283

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

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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