Familial Hemiplegic Migraine
Familial hemiplegic migraine – FHM is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness. FHM can occur as an autosomal dominant type of heritable migraine, generally linked to CACNA1A, ATP1A2 and SCN1A. The panel includes a fourth gene, PRRT2, a proposed linked factor.
The test is performed as data extract (virtual targeted panel) from whole exome data.
Chemistry: Twist Biosystems Human Core Exome
Hardware: Illumina Novaseq 6000 Sequencer
Data processing: Variant calling and filtering is performed with an in-house bioinformatic pipeline.
Metrics: Average read depth >100-fold. On target coverage >97% at a >20-fold read depth.
By ordering an analysis at Amplexa Genetics A/S, the requester confirms to have obtained the necessary informed consent for the performance of the requested analyses, and accepts Amplexa Genetics Terms and Conditions. A hard-copy requisition or an e-mail stating the specific analysis together with the receipt of a sample is considered an order to conduct the analysis.
From the day of order receipt the turn around time is 5 weeks.