|Test||SCN1A Comprehensive Test|
|Disease||Severe Myoclonic Epilepsy of Infancy (SMEI), Dravet Syndrome (DS), Generalized Epilepsy with Febrile Seizures Plus (GEFS+)|
|Method||Sanger Sequencing and large genomic re-arrangement assay (MLPA)|
|Notes||Presence of a genetic variation within the SCN1A gene determines pharmacotherapy antiepileptic treatment.|
|Specimen||Buccal swabs, peripheral blood (1x9mL EDTA) or extracted DNA (2.5µg)|
|Turn Around Time||Standard Service: 20 Business days
Express Service: 8 Business days
|Shipping||Room temperature, delivered within 72hrs for blood, no time constraints for swabs or DNA.
Refrigerate blood if storage is required prior to shipping, do not freeze.
(Downloadable documents are supplied within each kit dispatched)
|Price||Please contact us here about private, public and contractual pricing arrangements|
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(Physicians use only)