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