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Generalized Epilepsy With Febrile Seizures Plus via the GABRG2 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
4159 GABRG2 81405 81405,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4159GABRG281405 81405,81479 $990 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.

Testing run on PG-Select capture probes does not include exome-wide CNV analysis. Reflex is available to PGxome or an exome-based panel, or you can use this gene list to create a custom panel (click here).

Click here for costs to reflex to whole PGxome.

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.


Genetic Counselors


  • Eric Bend, PhD

Clinical Features and Genetics

Clinical Features

Idiopathic generalized epilepsy (IGE) is a clinically and genetically heterogeneous group of epilepsy disorders. IGE has a strong genetic basis, is not usually associated with cognitive defects and presents during childhood or adolescence. Sub-types of IGE include: juvenile myoclonic epilepsy (JME), childhood absence epilepsy (CAE), and generalized epilepsy with febrile seizures plus (GEFS+).

GEFS+ patients usually present with fever induced seizures between the ages of 6 months and 6 years. 'Plus' refers to the persistence of seizures into adolescence, when patients may also experience myoclonic, absence or focal seizures (Audenaert et al. 2006).


GEFS+ is inherited in an autosomal dominant manner and can be caused by mutations in the GABRG2 gene. Both missense and nonsense mutations in GABRG2 have been reported in cases of GEFS+. The penetrance of GABRG2 mutations is incomplete (Lachance-Touchette et al. 2011).

The GABRG2 gene encodes a subunit of the neuronally expressed GABAA receptor. GABA is an inhibitory neurotransmitter responsible for modulating signaling in the brain. Mutations in GABAA receptor subunits decrease the receptor's response to GABA, thus reducing GABA-signaling. It is proposed that this loss of inhibition in neurons results in increased synaptic excitation and epilepsy (Lachance-Touchette et al. 2011). It has been demonstrated that some mutations in GABRG2 are especially sensitive to elevated temperature, hence their association with febrile seizures (Kang et al. 2006).

Clinical Sensitivity - Sequencing with CNV PG-Select

GABRG2 mutations account for ~3-4% of GEFS+ cases and ~1% of IGE cases (Sun et al. 2008; Audenaert et al. 2006; Lachance-Touchette et al. 2011).

Testing Strategy

This test provides full coverage of all coding exons of the GABRG2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for GABRG2 testing include patients with a family history of febrile seizures that is consistent with autosomal dominant inheritance.


Official Gene Symbol OMIM ID
GABRG2 137164
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Audenaert  et al. 2006, Neurology 67: 687–690. PubMed ID: 16924025
  • Kang JQ et al. 2006. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 2590-7. PubMed ID: 16510738
  • Lachance-Touchette P et al. 2011. The European Journal of Neuroscience. 34: 237-49. PubMed ID: 21714819
  • Sun et al.  2008, Journal of Human Genetics 53: 769–774. PubMed ID: 18566737


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

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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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