Disorders

Variegate Porphyria

Synonym(s): Porphyria Variegata

Gene	Locus	Protein
PPOX	1q22	Protoporphyrinogen oxidase

Laboratory	Test Method	Prenatal	Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada	• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
GGA - Galil Genetic Analysis - Kazerin, Israel
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
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
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Porphyria DNA Testing - New York, NY, USA	• Analyte
Odense University Hospital, Department of Genetics - Odense, Denmark
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA	• Analyte
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
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.