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Epilepsy: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, Type 4 via the CHRNA2 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7945 CHRNA2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7945CHRNA281479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

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

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

  • Eric Bend, PhD

Clinical Features and Genetics

Clinical Features

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a childhood onset focal epilepsy characterized by seizures that occur during non-REM sleep. Seizures in ADNFLE patients can present as repetitive limb movements, sudden awakening, dystonic posturing, sleep walking, or elevation of the body or head with fear. Seizures are brief, lasting from 5 seconds to 5 minutes, and often patients maintain consciousness throughout the attack. Frontal origin of ADNFLE seizures is revealed by EEG recordings. ADNFLE associated seizures are often managed with low doses of antiepileptic drugs (AEDs). ADNFLE is not generally associated with severe cognitive deficits or psychiatric problems, however, studies suggests that ADNFLE may have wider neurological phenotypes (Aridon et al. 2006. PubMed ID: 16826524; Steinlein et al. 2012. PubMed ID: 22036597; Wood et al. 2010. PubMed ID: 20189461; Bennett et al. 2017. PubMed ID: 28717674).

Genetics

ADNFLE is inherited in an autosomal dominant manner and can be caused by pathogenic variants in the CHRNA2 gene (Aridon et al. 2006. PubMed ID: 16826524; Trivisano et al. 2015. PubMed ID: 25847220). CHRNA2 encodes neuronally expressed subunit 2 of the nicotinic cholinergic receptor (nAChR) which is a neurotransmitter-gated ion channel that has been fine-tuned through evolution to transduce a chemical signal into an electrical signal. The ADNFLE-associated CHRNA2 pathogenic variants are missense and nonsense. No large deletions or duplications have been reported (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

In a cohort of 77 unrelated Autosomal dominant nocturnal frontal lobe epilepsy patients, one had a pathogenic variant in CHRNA2 (Conti et al. 2015. PubMed ID: 25770198).

Testing Strategy

This test provides full coverage of all coding exons of the CHRNA2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

CHRNA2 sequencing is recommended for patients who are suspected to have autosomal dominant nocturnal frontal lobe epilepsy.

Gene

Official Gene Symbol OMIM ID
CHRNA2 118502
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Epilepsy, Nocturnal Frontal Lobe, Type 4 AD 610353

Citations

  • Aridon et al. 2006. PubMed ID: 16826524
  • Bennett et al. 2017. PubMed ID: 28717674
  • Conti et al. 2015. PubMed ID: 25770198
  • Human Gene Mutation Database (Bio-base).
  • Steinlein et al. 2012. PubMed ID: 22036597
  • Trivisano et al. 2015. PubMed ID: 25847220
  • Wood et al. 2010. PubMed ID: 20189461

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

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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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