Familial Hemiplegic Migraine

Familial hemiplegic migraine (FHM) is a hereditary form of migraine with aura. Confirmation of a diagnosis of FHM through genetic testing may guide medical treatment and management, as well as inform testing of family members.

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Test Code 7035
Turnaround Time (TAT) 2-4 weeks
Number of Genes 4
Specimen Requirements Click here

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Mutation Detection Rate

Our FHM panel can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

Our familial hemiplegic migraine testing is a multi-gene panel that includes next generation sequencing (NGS) and deletion/duplication analysis of 4 genes: ATP1A2, CACNA1A, PRRT2, and SCN1A. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS.

Additional Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis for available genes is performed utilizing a targeted chromosomal microarray. 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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