Peroxisomal Diseases Testing

Below is a list of tests offered through the Peroxisomal Diseases section of the Genetics Laboratories at Kennedy Krieger Institute. 

Peroxisomal Disesases Tests:

  • DHA (red blood cells)
  • Pipecolic Acid (plasma and urine)
  • Plasma Total Lipid Fatty Acid Profile: includes C8 to C30 saturated, monounsaturated, polyunsaturated (essential), trans, branched chain fatty acids, and the triene/tetraene ratio
  • Red Blood Cell Plasmalogen Content (Rhizomelic Chondrodysplasia Punctata)
  • Red Blood Cell Total Lipid Fatty Acid Profile: includes C8 to C30 saturated, monounsaturated, polyunsaturated (essential), trans, and branched chain fatty acids, and plasmalogens
  • Very Long Chain Fatty Acids, including Phytanic and Pristanic (plasma, fibroblasts) (X-linked Adrenoleukodystrophy, Zellweger Spectrum Disease)
  • Fibroblast Enzyme Analysis
    • Catalase Distribution
    • Phytanic Acid Oxidase
    • Pristanic Acid Oxidase
    • Plasmalogen Synthesis
  • Prenatal Diagnosis:
    • X-linked Adrenoleukodystrophy
    • Zellweger Spectrum Disease
    • Rhizomelic Chondrodysplasia Punctata

Please download the Peroxisomal Diseases Test Requisition Form for pricing, sample, and shipping requirements. The completed form should accompany the samples you send for testing.