Hemiplegic Migraine Panel (seq & del/dup of 4 genes)
Use
The Hemiplegic Migraine Panel is indicated for diagnostic evaluation of individuals with hemiplegic migraine (HM), a rare migraine subtype characterized by aura with temporary numbness or muscle weakness—typically unilateral—alongside possible visual disturbances, speech difficulties, altered consciousness, and, in some cases, cerebellar features or cognitive impairment. Both familial (autosomal dominant, 70–90% penetrance) and sporadic forms are considered, and about 40% of individuals experience prolonged aura which may mimic stroke or pose neurological risk. HM is associated with epilepsy, with 8–24% of individuals with epilepsy also experiencing migraine.
Special Instructions
Enrichment and analysis utilize a proprietary targeted capture system developed by GeneDx for both sequence analysis and exon-level deletion/duplication testing. Inheritance patterns include autosomal dominant for familial cases, though sporadic presentations may still have a genetic component. The test covers four ion-channel genes enriched for HM.
Limitations
The test is limited to four genes (ATP1A2, CACNA1A, SCN1A, PRRT2). It may not detect variants outside the coding regions (e.g., deep intronic, regulatory), structural variants beyond exon-level CNVs, or variants in genes not included in the panel. Negative results cannot exclude other genetic or multifactorial causes of hemiplegic migraine.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided