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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 10495 | STX1B | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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.
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.
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 |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Generalized Epilepsy with Febrile Seizures Plus, Type 9 | AD | 616172 |
Citations
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
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ORDER OPTIONS
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2) Select Additional Test Options
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