Disorders


 

Peroxisomal Bifunctional Enzyme Deficiency


 

OMIM

GeneLocusProtein
HSD17B45q2Peroxisomal multifunctional enzyme type 2

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
ATG-GenMed - Berlin, Germany• Sequence analysis of the entire coding region
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Kennedy Krieger Institute, Genetics Laboratory, Peroxisomal Disorders Section - Baltimore, MD, USA• Analyte
• Enzyme assay
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• 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.

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