Below is a list of tests offered through the Peroxisomal Diseases section of the Genetics Laboratories at Kennedy Krieger Institute.
Peroxisomal Disesases Tests:
- Pipecolic Acid (plasma and urine)
- Plasma Total Lipid Fatty Acid Profile: includes C10 to C26 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 C10 to C26 saturated, monounsaturated, polyunsaturated (essential), trans, and branched chain fatty acids
- Very Long Chain Fatty Acids, including Phytanic and Pristanic (plasma, fibroblasts) (X-linked Adrenoleukodystrophy, Zellweger Spectrum Disease)
- 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.