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Atrial Fibrillation Syndrome via the NPPA 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
3975 NPPA 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3975NPPA81479 81479,81479 $990 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.

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

Clinical Features

Atrial fibrillation is a disorder characterized by an abnormal and often rapid heart rhythm. This condition involves 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 with 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 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 atrial fibrillation is associated with a 40% increased risk for the disorder (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 can affect the current of the ion channels and change the atrial action potential and refraction period (Tucker et al. 2014).

Pathogenic variants in NPPA cause familial atrial fibrillation-6 (ATFB6). The Natriuretic Peptide Precursor A (NPPA) gene contains three exons (151 amino acids), encodes the precursor of atrial natriuretic peptide (ANP), and is located at Chr 1p36.21. ANP is a circulating hormone which plays a primary physiological role in the regulation of intravascular blood volume and vascular tone through ANP–cGMP signaling pathway (Vesely et al. 1998). Genetic variants in NPPA could increase the concentration of ANP and shortened atrial action potentials, which potentially enhances susceptibility to atrial fibrillation (Hodgson-Zingman et al. 2008). Most reported variants in NPPA are missense or nonsense variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Precise estimates of clinical sensitivity are not available because only a limited number of patients have been reported. Pathogenic NPPA variants, however, appear to be a rare cause of familial atrial fibrillation.

Testing Strategy

This test provides full coverage of all coding exons of the NPPA 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 familial atrial fibrillation are candidates for this test.

Gene

Official Gene Symbol OMIM ID
NPPA 108780
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Atrial Fibrillation, Familial, 6 AD 612201

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
  • Hodgson-Zingman D.M. et al. 2008. The New England Journal of Medicine. 359: 158-65. PubMed ID: 18614783
  • 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
  • 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
  • Vesely D.L. et al. 1998. Circulation. 98: 323-9. PubMed ID: 9711937

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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View Ordering Instructions

1) Select Test Method (Platform)


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.

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