Clinical Epilepsy NGS Panel
Use
Diagnostic testing
Special Instructions
Not provided.
Limitations
The assay primarily focuses on detecting certain genetic variants and might not consistently detect mosaicism or large chromosomal alterations, including rearrangements and inversions that do not result in a change of copy number. It is also not designed to detect repeat expansions. The test is prone to false negatives or positives due to various factors such as limited information on rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, and errors related to blood transfusions, bone marrow transplants, or mislabeled samples. The clinical interpretation of genetic variations is contingent upon the availability of relevant information and the quality and quantity of the provided clinical data at the time of reporting. Therefore, interpretations of gene variants' significance can evolve as more data becomes available.
Methodology
NGS
Biomarkers
LOINC Codes
- 51969-4 - Gene analysis narr rpt Doc
- 51969-4 - Gene analysis narr rpt Doc
- 50398-7 - Narrative diagnostic report-Imp
- 8251-1 - Service Cmnt-Imp
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | do not freeze |
Other tests from different labs that may be relevant