Atrial Fibrillation via the GJA5 Gene

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
9063 GJA5 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9063GJA581479 81479 $890 Order Options and Pricing

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.

For Reflex to PGxome pricing click here.

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

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Clinical Features and Genetics

Clinical Features

Atrial fibrillation is a disorder with an abnormal and often rapid heart rhythm. This condition is characterized by uncoordinated electrical activity in the atria, “irregularly irregular” pattern in ECG and supraventricular tachyarrhythmia, which deteriorates atrial mechanical function. If untreated, atrial fibrillation can lead to a reduction in cardiac output, atrial thrombus formation and increased risk for mortality. Patients with atrial fibrillation can present dizziness, chest pain, palpitations, shortness of breath, or even syncope (Fuster et al. 2011). Complications of atrial fibrillation can occur at any age and some people may never experience any health problems. The likelihood of developing arrhythmias increases with age. Atrial fibrillation can be prevented and treated (Van Wagoner et al. 2015).

Genetics

Atrial fibrillation (AF) is the most common cardiac arrhythmia disorder, and currently affects nearly 3 million Americans (Naccarelli et al. 2009). Although the incidence of the familial form of atrial fibrillation is unknown, having a family member with AF is associated with a 40% increased risk for atrial fibrillation (Lubitz et al. 2010).

Familial atrial fibrillation is a highly heterogeneous disease and is transmitted in an autosomal dominant pattern. There are at least 15 genes associated with familial atrial fibrillation: ABCC9, GJA5, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNH2, KCNJ2, KCNQ1, NPPA, SCN1B, SCN2B, SCN3B and SCN5A. The majority of genes associated with atrial fibrillation are components of two important ion channels: potassium and sodium. Both loss and gain of function variants in those genes can affect the current of ion channel and change the atrial action potential and refraction period (Tucker et al. 2014). A few non-ion channel genes instigate the atrial fibrillation by an alternative mechanism. GJA5 is one of them.

GJA5 encodes the gap junction protein, Connexin 40. Gap junctions are a specialized intercellular connection and provide direct intercellular communication. In the heart, gap junctions mediate electrical coupling between cells. Variants in GJA5 could disrupt the propagation of action potential between cardiomyocytes (Gollob et al. 2006).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity is not available because only a limited number of patients have been reported (Olesen et al. 2014; Lübkemeier et al. 2013). Gross deletions or duplications not detectable by Sanger sequencing have been reported in GJA5 as individual cases of Tetrology of Fallot, but no statistics are yet available (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the GJA5 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.

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

Indications for Test

All patients with symptoms suggestive of inherited Atrial Fibrillation are candidates for this test.

Gene

Official Gene Symbol OMIM ID
GJA5 121013
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Atrial Fibrillation, Familial, 11 AD 614049

Related Tests

Name
Comprehensive Cardiac Arrhythmia Panel
Comprehensive Cardiology Panel
Familial Atrial Fibrillation Syndrome Panel

Citations

  • Fuster V. et al. 2011. Circulation. 123: e269-367 PubMed ID: 21382897
  • Gollob M.H. et al. 2006. The New England Journal of Medicine. 354: 2677-88. PubMed ID: 16790700
  • Human Gene Mutation Database (Bio-base).
  • Lübjenuer I. et al. 2013. Journal of Molecular and Cellular Cardiology. 65:19-32 PubMed ID: 24060583
  • Lubitz S.A. et al. 2010. Jama. 304: 2263-9. PubMed ID: 21076174
  • Naccarelli G.V. et al. 2009. The American Journal of Cardiology. 104: 1534-9. PubMed ID: 19932788
  • Olesen M.S. et al. 2014. Heart Rhythm: the Official Journal of the Heart Rhythm Society. 11: 246-51. PubMed ID: 24144883
  • Tucker N.R., Ellinor P.T. 2014. Circulation Research. 114: 1469-82. PubMed ID: 24763465
  • Van Wagoner D.R. et al. 2015. Heart Rhythm  12: e5-e29. PubMed ID: 25460864

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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