Dystonia, dopamine responsive

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

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