Disorders

Erythropoietic Protoporphyria, Autosomal Recessive

Gene	Locus	Protein
FECH	18q21.2-q21.3	Ferrochelatase

Laboratory	Test Method	Prenatal	Carrier *
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Porphyria DNA Testing - New York, NY, USA
Odense University Hospital, Department of Genetics - Odense, Denmark
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.