Dravet syndrome

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:

• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

Remarks
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

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