Disorders

PEX7-Related Refsum Disease

Gene	Locus	Protein
PEX7	6q21-q22.2	Peroxisomal targeting signal 2 receptor

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Praxis fuer Humangenetik Wien - Vienna, Austria
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, 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.