CSTB Gene, Repeat Expansion Analysis, Varies
Use
This test is useful for the molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy. It identifies full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for predictive testing of at-risk family members. The test impacts patient treatment and management by identifying a specific underlying etiology for epilepsy, directing appropriate use of anti-epileptic drugs and other treatment modalities.
Special Instructions
Not provided.
Limitations
This assay will not detect nonrepeat expansion variants, and progressive myoclonic epilepsy may be caused by variants in other genes. Rare variants may lead to false-negative results. The test results should be interpreted in the context of clinical findings, family history, and other laboratory data.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
No genes
Gene
LOINC Codes
- 41110-8 - CSTB gene Mut Anl Bld/T
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 42349-1
- 31208-2 - Specimen source
- 85069-3 - Lab test method
- 18771-6 - Provider signing name
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA), yellow top (ACD), or green top (sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |