Disorders

BH4-Deficient Hyperphenylalaninemia C

Synonym(s): DHPR Deficiency, Dihydropteridine Reductase Deficiency, HPABH4C, QDPR Deficiency, Quinoid Dihydropteridine Reductase Deficiency

OMIM

Gene	Locus	Protein
QDPR	4p15.31	Dihydropteridine reductase

Laboratory	Test Method	Prenatal	Carrier *
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark
Medical Neurogenetics - Atlanta, GA, USA	• Analyte
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Enzyme assay
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• 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.