| EX1601 Nx GEN SEQUENCING: FAMILIAL HEMIPLEGIC MIGRAINE |
| Specimen: |
Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
72 hrs |
NA |
|
| Method: |
NGS, Sanger sequencing |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
Familial hemiplegic migraine (FHM) is a common cause of headache that runs in families. Migraines usually cause episodic headaches associated with nausea, vomiting, and sensitivity to light and sound. Migraine attack has 3 phases namely- prodrome phase, headache phase & postdrome phase. About 20-25% of patients have 4th phase called the aura phase. Mutations in the CACNA1A, ATP1A2, SCN1A & PRRT2 genes have been found to cause FHM. The first three genes provide instructions for making proteins involved in the transport of charged ions across cell membranes. The function of the protein produced from the PRRT2 gene is unknown, although studies suggest it interacts with a protein that helps control signaling between neurons. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Genetic Disorders-Migraine |
| Components: |
ATP1A2, CACNA1A, PRRT2, SCN1A |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Whole Exome Sequencing Consent Form is mandatory. |
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