Disorders


 

Refsum Disease


Synonym(s): Adult Refsum Disease, Hereditary Motor and Sensory Neuropathy IV, Phytanic Acid Oxidase Deficiency, Phytanic Acid Storage Disease, Refsum Syndrome

 

GeneReviewOMIM


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
  
Centogene AG, Rare Disease Company - Rostock, Germany• Analyte
  
Kennedy Krieger Institute, Genetics Laboratory, Peroxisomal Disorders Section - Baltimore, MD, USA• Analyte
• Enzyme assay
 
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
 
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA• Analyte
 
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA• Analyte
 
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• 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.

Loading...