Polymicrogyria

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

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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

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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:

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

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

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