Peroxisomal Diseases Testing

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

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