Disorders

Zellweger Syndrome Spectrum

Gene	Locus	Protein
PEX1	7q21.2	Peroxisome biogenesis factor 1
PEX10	1p36.32	Peroxisome biogenesis factor 10
PEX12	17q21.1	Peroxisome assembly protein 12
PEX13	2p16.1
PEX14	1p36.22	Peroxisomal membrane protein PEX14
PEX16	11p
PEX19	1q22
PEX2	8q21.11
PEX26	22q11.21
PEX3	6q24.2
PEX5	12p
PEX6	6p22-p11	Peroxisome biogenesis factor 1

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Analyte
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany	• Analyte
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
diagenos - Osnabrueck, Germany	• Sequence analysis of select exons
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA	• Sequence analysis of select exons
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte
Kennedy Krieger Institute, Genetics Laboratory, Peroxisomal Disorders Section - Baltimore, MD, USA	• Analyte • Enzyme assay
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Medgene, MedGene - Bratislava, Slovakia
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
Praxis fuer Humangenetik Wien - Vienna, Austria
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA	• Analyte
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Targeted mutation analysis • Analyte • Enzyme assay
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Sequence analysis of select exons • Analyte • Enzyme assay • Immunohistochemistry
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Analyte • Enzyme assay

^* 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.