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Brugada Syndrome via the GPD1L Gene

Order Options and Pricing
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Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
GPD1L 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9955GPD1L81479 81479,81479 $990 Order Options and Pricing

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Chun-An Chen, PhD

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Chun-An Chen, PhD

Clinical Features and Genetics

Indications for Test

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

Clinical Features

Brugada syndrome (BrS) is a potentially life-threating 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 any 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 genetic disorder with variable expression, resulting from mutations 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 of Brugada syndrome (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 mutations in BrS are rare (Hedley et al. 2009). So far, all causative variants reported in GPD1L are missense (Human Gene Mutation Database).

The GPD1L gene is composed of eight exons spanning 62 kb at chromosome 3p24–p22 and associated with Brugada Syndrome 2 (Nagase et al. 1995; London et al. 2007). GPD1L encodes glycerol-3-phosphate dehydrogenase 1-like protein and plays a role in regulating cardiac sodium current through modifying SCN5A function (London et al. 2007). Mutants of GPD1L increased glycerol-3-phosphate PKC-mediated  phosphorylation of SCN5A which in turn causes a dysfunction in sodium current  (Valdivia et al. 2009). This GPD1L pathway is demonstrated to be affected by the balance between oxidized and reduced nicotinamide adenine dinucleotide hydrogenase (NADH) (Liu et al. 2009).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in SCN5A gene cause 15%-30% of Brugada syndrome 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 with Brugada syndrome (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.

Testing Strategy

This test provides full coverage of all coding exons of the GPD1L gene 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 full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

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

Gene

Official Gene Symbol OMIM ID
GPD1L 611778
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Brugada Syndrome 2 611777

Related Tests

Name
Brugada Syndrome 1 via the SCN5A Gene
Brugada Syndrome via the KCNE3 Gene
Brugada Syndrome via the SCN3B Gene

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
  • 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).
  • 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
  • Kapplinger JD. et al. 2010. Heart rhythm : the official journal of the Heart Rhythm Society. 7: 33-46. PubMed ID: 20129283
  • Liu M, Sanyal S, Gao G, Gurung IS, Zhu X, Gaconnet G, Kerchner LJ, Shang LL, Huang CL-H, Grace A, London B, Dudley SC. 2009. Cardiac Na+ current regulation by pyridine nucleotides. Circ. Res. 105: 737–745. PubMed ID: 19745168
  • London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr. 2007. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation 116: 2260–2268. PubMed ID: 17967977
  • Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S, Ishikawa K, Kawarabayasi Y, Kotani H. 1995. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. DNA Res. 2: 37–43. PubMed ID: 7788527
  • Valdivia CR, Ueda K, Ackerman MJ, Makielski JC. 2009. GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. Am. J. Physiol. Heart Circ. Physiol. 297: H1446–1452. PubMed ID: 19666841

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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