SCN1A - Dravet syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Dravet syndrome
This product is also part of the following panels:
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
MLPA analysis for this gene will not be performed routinely. Deletions can be detected with high resolution SNP array and can be requested seperately.
OMIM:
607208
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane