Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication
Also known as: EPI NGS
Use
Epilepsy is a neurological disorder characterized by recurrent unprovoked seizures. It can be classified by seizure type, such as focal, generalized, or a combination of both. Epilepsy has significant genetic and phenotypic heterogeneity, and genetic testing can help in diagnosing idiopathic and syndromic forms where seizures are a main feature. This panel tests for genetic variants associated with epilepsy, which occurs in approximately 0.64% of the population worldwide, with a lifetime risk of 1 in 26. Genetic causes account for about 30% of epilepsy cases.
Special Instructions
Not provided.
Limitations
This test detects variants in coding regions and intron-exon boundaries of the genes tested. It may not detect deletions or duplications of two or fewer exons, regulatory region variants, deep intronic variants, low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA (mtDNA) variants, or repeat expansions. Deletion/duplication detection is limited for certain genes due to technical constraints. Interpretation may be affected by allogeneic stem cell transplantation and pseudogene presence.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA), yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant