Familial Atrial Fibrillation Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10323 ABCC9 81479,81479 Order Options and Pricing
GJA5 81479,81479
KCNA5 81479,81479
KCND3 81479,81479
KCNE1 81479,81479
KCNE2 81479,81479
KCNE5 81479,81479
KCNH2 81406,81479
KCNJ2 81403,81479
KCNQ1 81406,81479
NPPA 81479,81479
SCN1B 81404,81479
SCN2B 81479,81479
SCN3B 81479,81479
SCN5A 81407,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10323Genes x (15)81479 81403, 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.

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.

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

Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the atria, “irregularly irregular” pattern in ECG and supraventricular tachyarrhythmia, which leads to deterioration of 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 with dizziness, chest pain, palpitations, shortness of breath, or even syncope (Fuster et al. 2011). Complications of familial 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

Familial atrial fibrillation is highly heterogeneous and is transmitted in an autosomal dominant or X-linked dominant pattern. This panel includes 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 the ion channels and change the atrial action potential and refraction period (Tucker et al. 2014). A few non-ion channel genes instigate atrial fibrillation by alternative mechanism: GJA5 encodes the gap junction protein Connexin 40. Variants in GJA5 disrupt the propagation of action potential between cardiomyocytes (Gollob et al. 2006). NPPA encodes the precursor of atrial naturetic peptide (ANP). Variants in NAAP disturb the role of the ANP– cGMP pathway in cardiac electrical stability (Hodgson-Zingman et al. 2008). ABCC9 encodes channel regulator, SUR2A, which is a subunit of the ATP-sensitive potassium channel (Olson et al. 2007). 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 the atrial fibrillation (Lubitz et al. 2010). A wide variety of causative variants (missense, nonsense, splicing, small deletions and insertions) have been reported. Large deletions/duplications and complex genomic rearrangements have also been reported in some of the genes in this panel (GJA5, KCNA5, KCNH2, KCNJ2, KCNQ1 and SCN5A) (Human Gene Mutation Database). See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

There is insufficient published data to calculate accurate clinical sensitivity. It is estimated to be around 10% based on personal communication.

Large deletions/duplications and complex genomic rearrangements have been reported in GJA5, KCNA5, KCNH2, KCNJ2, KCNQ1 and SCN5A, but no large-scale study has been done (Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% 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).

Indications for Test

All patients with symptoms suggestive of familial atrial fibrillation are candidates for this test.

Genes

Official Gene Symbol OMIM ID
ABCC9 601439
GJA5 121013
KCNA5 176267
KCND3 605411
KCNE1 176261
KCNE2 603796
KCNE5 300328
KCNH2 152427
KCNJ2 600681
KCNQ1 607542
NPPA 108780
SCN1B 600235
SCN2B 601327
SCN3B 608214
SCN5A 600163
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

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
  • Hodgson-Zingman D.M. et al. 2008. The New England Journal of Medicine. 359: 158-65. PubMed ID: 18614783
  • Human Gene Mutation Database (Bio-base).
  • 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
  • Olson T.M. et al. 2007. Nature Clinical Practice. Cardiovascular Medicine. 4: 110-6. PubMed ID: 17245405
  • 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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