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GCH1 - Dystonia, dopamine responsive
This test is available for the following conditions:
- Conditions > Metabolic disorders > Dystonia, dopamine responsive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Movement disorders panel
- Parkinson disease panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600225
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SPR - sepiapterin reductase deficiency
This test is available for the following conditions:
- Conditions > Metabolic disorders > Dystonia, dopamine responsive
- Conditions > Neurological > Dystonia, dopamine responsive
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
182125
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
