Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies
Use
This gene panel test is clinically significant for establishing a molecular diagnosis in individuals suspected of having hemiplegic migraine. It is useful in identifying disease-causing variants within genes known to be associated with hemiplegic migraine, which in turn allows for predictive testing of at-risk family members. The identification of a pathogenic variant can assist with diagnosis, prognosis, clinical management, familial screening, recurrence risk assessment, and genetic counseling for hemiplegic migraine.
Special Instructions
A previous bone marrow transplant from an allogenic donor will interfere with testing; please contact the laboratory for instructions. If fibroblast culture is required, a separate culture charge will apply, and an additional 3 to 4 weeks will be needed to culture fibroblasts before genetic testing. Genetic testing requires informed consent for New York clients.
Limitations
Next-generation sequencing may not detect all types of genomic variants, and there might be false-negative or false-positive results. Depth of coverage may be variable, and there may be regions of the genome that cannot be effectively evaluated by the sequencing approach used, particularly in regions of homology or high GC content. Certain types of genetic changes, such as balanced translocations and inversions, may not be detected.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103677-1
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 48767-8
- 85069-3
Result Turnaround Time
28-42 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) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |
| Refrigerated | Refrigerated (preferred) |
