Disorders


 

Erythropoietic Protoporphyria, Autosomal Recessive


 

GeneReviewOMIM

GeneLocusProtein
FECH18q21.2-q21.3Ferrochelatase, mitochondrial

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

Loading...