Dravet Syndrome Report

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Dravet Syndrome

Dravet Syndrome is a refractory epileptic encephalopathy, occurring in otherwise healthy children. Onset generally occurs in the first year of life with clonic/tonic-clonic, unilateral and generalized seizures occurring every 1-2 months associated with fever. Generalized or hemiclonic status epilepticus, myoclonia, atypical absences, complex partial seizures may also occur. The pathology progresses with delayed psychomotor development, ataxia and movement disorders. Photosensitivity may also be present. The underlying genetic defects (usually de novo mutations) affect, in 80% of cases, the SCN1A gene, which codes for the sodium ion channel. A positive family history of epilepsy or febrile convulsions affects approximately 25% of affected individuals.

1 genes analyzed


It is recommended if:

Genetic testing can be particularly useful in very young children, when the clinical picture alone is not enough to obtain the diagnosis.


List of main conditions:

  • Dravet Syndrome
  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • Investigates SNP and Indel mutations up to 150 bp

Simple workflow

*To generate this report, a sequencing test is mandatory. If you have not yet acquired a sequencing test, kindly make the purchase at this link: Dante Genome Test now!

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FAQs

How will my data be used?

Your data is yours. Which is why we have developed proprietary software linked to a dedicated platform, the Genome Manager, to provide you with unique access to your data whenever you want, wherever you are.

How can my doctor use the results?

You will be provided with a digital version of the raw data and reports. Thanks to these in-depth tools, you will be able to share your preferred information with your geneticist and/or doctor to indicate and plan the healthiest course for you. 

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The first thing to do when you receive your kit is to register it on your Genome Manager account. Dante's proprietary platform will keep you up-to-date on all stages of your genetic journey, providing you with the real-time status of your sample and where you can download your free report and raw data* at any time.

*Raw data will be available free of charge for the first 30 days after release.

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