Familial Hemiplegic Migraine

Familial hemiplegic migraine (FHM) is a category of migraine with aura (MA) which presents with motor involvement (i.e. hemiparesis), as well one additional symptom which may include a neurologic deficit or a variety of cerebellar signs. 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 6866
Turnaround Time (TAT) 2-4 weeks
Number of Genes 4

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We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests


Test Description

Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology and quantified. Each DNA sample is sheared, adaptor ligated, PCR-amplified and incubated with the exome baits. Captured DNA is eluted, and PCR amplified. Final quantified libraries are seeded onto an Illumina flow cell and sequenced using paired-end, 150 cycle chemistry on the Illumina HiSeq or NextSeq. 

Coding exons plus at least 6 bases into the 5’ and 3’ ends of all the introns are analyzed and reported. Gross deletion/duplication analysis is assessed for all genes within the targeted exome using a custom pipeline based on coverage (>4 exons in size) and/or breakpoint analysis from NGS data and confirmed by targeted chromosomal microarray, SNP array or MLPA when applicable. CNVs detected by NGS pipeline for which no orthogonal method of confirmation is available will not be included. 

Co-segregation studies are performed if family members are available. Co-segregation results may be confounded by many factors which cannot be completely ruled out including reduced penetrance, age-of-onset, and/or variable expressivity. In most cases, phase cannot be determined.   

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