SCN1A Comprehensive Test

 

Test SCN1A Comprehensive Test
Gene SCN1A
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.
More Information
Required Documents
(Downloadable documents are supplied within each kit dispatched)
  1. Patient Informed Consent Form: Adult
  2. Patient Informed Consent Form: Guardian
  3. Physician Test Request Form
  4. Payment Form (private patients only)
  5. Customs Declaration Form (international patients only)
  6. Import Permit Blood/DNA/Tissue (international patients only)
  7. Import Permit Diagnostic Kits (international patients only)
Price Please contact us here about private, public and contractual pricing arrangements
Order a Kit
(Physicians use only)
Order Now