Test Code: PNL107
Familial hemiplegic migraine, CADASIL, retinal vasculopathy with cerebral leukodystrophy, hereditary hemorrhagic telangiectasia, familial cerebral cavernous malformations & alternating hemiplegia of childhood (10 Genes)
Oncogenetics
This panel analyzes 10 genes associated with hereditary cerebral vascular disorders and related neurological conditions presenting with migraine, stroke-like episodes, cerebral vasculopathy, and childhood paroxysmal neurological events. Testing is indicated for individuals with clinical suspicion of the following conditions: Familial Hemiplegic Migraine (FHM), CADASIL, Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), Hereditary Hemorrhagic Telangiectasia (HHT), Familial Cerebral Cavernous Malformations (FCCM) and Alternating Hemiplegia of Childhood (AHC)
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
10 genes
ATP1A2
CACNA1A
SCN1A
NOTCH3
TREX1
ENG
ACVRL1
SMAD4
KRIT1
CCM2
Methodology
Target enrichment (capture-based or amplicon-based) isolates coding exons and flanking intronic regions of the panel genes. Libraries are sequenced on an GenolabM to ≥100× average depth. A validated bioinformatics pipeline aligns reads, calls variants (SNVs, indels, CNVs), and annotates results.
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