SCN1A Mutation Segregation Analysis

 

Test SCN1A Gene Mutation Segregation Analysis
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 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.
Requirement
  • Identified Specific Genetic Change (Report)
  • Positive Familial Control (200ng)
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 Buccal Swab (international patients only)
Price Please contact us here about private, public and contractual pricing arrangements
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(Physicians use only)
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