GTR Home > Tests > Epilepsy, Generalized With Febrile Seizures Plus, Type 2/Dravet Syndrome (SCN1A)

Overview

Test name

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Epilepsy, Generalized With Febrile Seizures Plus, Type 2/Dravet Syndrome (SCN1A) (SCN1A)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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3 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Blood collected in lavender top collection tubes or extracted DNA should be submitted along with a completed Molecular DNA Test Requisition form.
Order URL Help: http://chginc.org/

Test services

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  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • EFNS, 2010
    EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
  • Orphanet, 2008
    Orphanet, Dravet syndrome, 2008

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