Disorders

Congenital Erythropoietic Porphyria

Synonym(s): Gunther disease

Gene	Locus	Protein
UROS	10q25.2-q26.3	Uroporphyrinogen-III synthase

Laboratory	Test Method	Prenatal	Carrier *
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte • Enzyme assay
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte • Enzyme assay
Medgene, MedGene - Bratislava, Slovakia
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Porphyria DNA Testing - New York, NY, USA
Praxis fuer Humangenetik Wien - Vienna, Austria
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA	• Analyte
University of Texas Medical Branch, Porphyria Laboratory - Galveston, TX, USA	• Analyte

^* 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.