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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

GEN

complete analysis

targeted analysis of a familial mutation

€ 336

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Dystonia, dopamine responsive

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Gene

SPR - sepiapterin reductase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Performing laboratory
Radboudumc

€ 336

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SPR - sepiapterin reductase deficiency

GEN

complete analysis

targeted analysis of a familial mutation

€ 336

Add Update Remove

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