Disorders


 

Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency


Synonym(s): Sepiapterin Reductase Deficiency, SPR Deficiency

 

OMIM

GeneLocusProtein
SPR2p14-p12Sepiapterin reductase

Laboratory Test Method Prenatal Carrier *
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark• Sequence analysis of the entire coding region
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Analyte
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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