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Epilepsy: Generalized Epilepsy with Febrile Seizures Plus, Type 9 via the STX1B 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
10495 STX1B 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10495STX1B81479 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

Generalized epilepsy with febrile seizures plus, type 9 is a fever-associated epilepsy syndrome characterized by episodes of febrile seizures around age 3. However, afebrile seizures also occur. The disorder shows high phenotypic variability with different type of seizures including generalized tonic-clonic, atonic, myoclonic, complex partial and absence. In some patients, developmental delay has been noted (Schubert et al. 2014. PubMed ID: 25362483; Kearney. 2015. PubMed ID: 26316853).

Genetics

Generalized epilepsy with febrile seizures plus, type 9 is inherited in an autosomal dominant manner and is caused by pathogenic variants in the STX1B gene. STX1B encodes syntaxins which is a presynaptic protein involving in regulation of synaptic vesicle exocytosis and the releasable pool in central synapses (Schubert et al. 2014. PubMed ID: 25362483; Mishima et al. 2014. PubMed ID: 24587181). The reported pathogenic variants include missense, nonsense, small framshift deletion/duplication, small indel variants, as well as a large deletion (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Generalized epilepsy with febrile seizures plus is clinically and genetically heterogeneous. Clinical sensitivity for STX1B cannot be estimated because only a small number of patients have been reported. Analytical sensitivity should be high because all pathogenic variants reported are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the STX1B gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

This STX1B sequencing test is recommended for patients who are suspected to have generalized epilepsy with febrile seizures plus, type 9.

Gene

Official Gene Symbol OMIM ID
STX1B 601485
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Human Gene Mutation Database (Bio-base).
  • Kearney 2015. PubMed ID: 26316853
  • Mishima et al. 2014. PubMed ID: 24587181
  • Schubert et al. 2014. PubMed ID: 25362483

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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