Disorders

Cytochrome P450 Oxidoreductase Deficiency

Synonym(s): POR Deficiency

Gene	Locus	Protein
POR	7q11.2	NADPH--cytochrome P450 reductase

Laboratory	Test Method	Prenatal	Carrier *
GeneDx - Gaithersburg, MD, USA
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
Medical University Innsbruck, Department of Medical Genetics - Molecular and Clinical Pharmacology - Innsbruck, Austria
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - New York, NY, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.