|Test||SCN1A Gene Mutation Segregation Analysis|
|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||Single site DNA analysis for a specified genetic change. Testing biological parents of the patient is required to confirm the nature of the observed genetic variant and to clarify the results interpretation.|
|Specimen||Buccal swabs, peripheral blood (1x9mL EDTA) or genomic DNA (0.5µg)|
|Turn Around Time||Standard Service: 10 Business days
Express Service: 5 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)