Genetic TestsDRAVET Syndrome SCN1A

• Test Name: DRAVET Syndrome SCN1A
• Test Code: 4782

• Dravet syndrome (OMIM #: 607208) || Gene: SCN1A (OMIM #: 182389)
• “Epilepsy, generalized, with febrile seizures plus, type 2” (OMIM #: 604403)
• “Febrile seizures, familial, 3A” (OMIM #: 604403)
• “Migraine, familial hemiplegic, 3” (OMIM #: 609634)

• “SODIUM CHANNEL, BRAIN TYPE I, ALPHA SUBUNIT; NAC1”
• “ODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT;�SCN1A”
• NAV1.1

• Methodology: Next Generation DNA Sequencing
• Performed: Everyday
• Reported: 6 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Neurogenetics