Tests available through the Genetics Laboratories at Kennedy Krieger Institute are listed below by section. Please download the appropriate requisition form for pricing, sample, and shipping requirements.


Biochemical Genetics Tests

  • Amino Acid Analysis, quantitative
  • N-acetyl-l-aspartic acid (Canavan Disease)
  • Acylcarnitine Profile
  • Carnitine, free and total
  • Cholestanol (Cerebrotendinous xanthomatosis)
  • Cholesterol Biosynthesis Intermediates:
    • 7-Dehydrocholesterol (Smith-Lemli-Opitz Syndrome)
    • Lathosterol (Lathosterolosis)
    • Desmosterol (Desmosterolosis)
  • 8(9) Cholestenol (CDPX2)
  • Guanidinoacetic Acid + Creatine
  • 3-Methylglutaconic acid
  • Methylmalonic acid
  • Mevalonate (Mevalonic Aciduria, Hyper IgD Syndrome)
  • Organic Acids gas chromatography/mass spectrometry
  • Orotic Acid
  • Sitosterol (Sitosterolemia, Phytosterolemia)
  • Prenatal Diagnosis:
    • Canavan Disease
    • Smith-Lemli-Optiz Syndrome

Biochemical Genetics Requisition Form


Peroxisomal Diseases 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)
  • C26:0 lysophosphatidylcholine (screen for peroxisomal disorders, including carrier status of X-linked adrenoleukodystrophy)
  • Prenatal Diagnosis:
    • X-linked Adrenoleukodystrophy
    • Zellweger Spectrum Disease
    • Rhizomelic Chondrodysplasia Punctata

Peroxisomal Diseases Requisition Form