GRIN2A - focal epilepsy and speech disorder with or without intellectual disability
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Epilepsy with neurodevelopmental defects (EPND)
- Conditions > Neurological > Epilepsy with neurodevelopmental defects (EPND)
This product is also part of the following panels:
- WES epilepsy (99.3% *)
- WES intellectual disability (99.3% *)
- WES intellectual disability (99.3% *)
- WES Mendelian inherited disorders (99.3% *)
- WES Mendelian inherited disorders (99.3% *)
* % 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
OMIM:
138253
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane