NL
GPR56 - bilateral frontoparietal polymicrogyria
This test is available for the following conditions:
- Conditions > Neurological > Polymicrogyria
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of selected exons and flanking intron-exon boundaries
OMIM:
606854
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GPR56 - bilateral perisylvian polymicrogyria
This test is available for the following conditions:
- Conditions > Neurological > Polymicrogyria
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
615752
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TUBB2B - polymicrogyria, symmetric or asymmetric
This test is available for the following conditions:
- Conditions > Neurological > Polymicrogyria
This product is also part of the following panels:
- WES epilepsy (100.0% *)
- WES fetal akinesia (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited 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
OMIM:
612850
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
