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.
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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
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