Atrial Fibrillation Syndrome via the MYL4 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
8463 MYL4 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8463MYL481479 81479(x2) $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.

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 backbone).

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

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 13 days 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).

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 leads to a 40% increased risk for the disorder (Lubitz et al. 2010).

Genetics

Pathogenic variants in MYL4 cause familial atrial fibrillation-18 (ATFB18). Both homozygous and heterozygous MYL4 pathogenic variants have been reported to be associated with atrial fibrillation in a small number of patients, leading to insufficient data to accurately determine the mode of inheritance (Orr et al. 2016; Gudbjartsson et al. 2017). Atrial Myosin Light Chain 1 (ALC-1) encoded by MYL4 (Myosin Light Chain 4) contains 197 amino acids, is spread over 27 kb of genomic DNA and is located at 17q21.32. ALC-1 can modulate the cross-bridge transition, which is important for myosin cross-bridge cycling and cardiac contractility (Morano et al. 1996) A pathogenic variant in MYL4 could destabilize the F-actin–Z-disk complex, affect calcium signaling and result in atrial arrhythmias (Orr et al. 2016).

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 MYL4 variants appear to be a rare cause of familial atrial fibrillation.

Testing Strategy

This test provides full coverage of all coding exons of the MYL4 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
MYL4 160770
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Atrial Fibrillation, Familial, 18 AD 617280

Citations

  • Fuster V. et al. 2011. Circulation. 123: e269-367. PubMed ID: 21382897
  • Gudbjartsson D.F. et al. 2017. European Heart Journal. 38:27-34. PubMed ID: 27742809
  • Lubitz S.A. et al. 2010. Jama. 304: 2263-9. PubMed ID: 21076174
  • Morano M. et al. 1996. The Journal of Clinical Investigation. 98: 467-73. PubMed ID: 8755658
  • Naccarelli G.V. et al. 2009. The American Journal of Cardiology. 104: 1534-9. PubMed ID: 19932788
  • Orr N. et al. 2016. Nature Communications. 7: 11303. PubMed ID: 27066836
  • 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.
  • 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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.
Total Price: $
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