What tests are used to diagnose Dravet syndrome?
There are now commercially available blood tests which can screen for an SCN1A gene mutation that may be ordered by your doctor. However, current technology may not detect all mutations. Some screening labs also test for SCN2A, GABRG2 and PCDH19 mutations that may cause Dravet syndrome and related epilepsies. Consultation with a genetic counselor is available for families through some labs.
Why choose Children’s Colorado for Dravet testing?
Children’s Hospital Colorado follows the largest group of children with Dravet syndrome in the region; and therefore our providers have experience with this rare syndrome. We have compassionate use access to stiripentol (an anticonvulsant drug used in the treatment of epilepsy; approved for the treatment of Dravet syndrome, as well as participate in national trials for treatment of this rare disorder.
What to expect from Dravet syndrome testing
This is a simple blood test that can be drawn in the lab. The results can take up to three months to return.
How do providers at Children’s Hospital Colorado make a diagnosis?
Dravet syndrome is diagnosed clinically based on seizure history, clinical aspects, neurologic examination, EEG pattern and observation. Subsequently, genetic testing of the SCN1A gene can confirm the diagnosis in the majority of cases. However, a mutated SCN1A gene cannot be identified in approximately 20% of the patients who meet the diagnostic criteria of the syndrome. Therefore, it is possible that other genes might be involved.