Disorders

Peroxisomal Bifunctional Enzyme Deficiency

Gene	Locus	Protein
HSD17B4	5q2	Peroxisomal multifunctional enzyme type 2

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
ATG-GenMed - Berlin, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Kennedy Krieger Institute, Genetics Laboratory, Peroxisomal Disorders Section - Baltimore, MD, USA	• Analyte • Enzyme assay
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Targeted mutation analysis • 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.