Gene

GCH1 - Dystonia, dopamine responsive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

GCH1 - Dystonia, dopamine responsive



€ 725

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:

** % 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: 600225
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

SPR - sepiapterin reductase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 564

SPR - sepiapterin reductase deficiency



€ 564

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




€ 564