Biochemical Testing

Below is a list of tests offered through the Biochemical Genetics section of the Genetics Laboratories at Kennedy Krieger Institute. Please download the Biochemical Genetics Test Requisition Form for pricing, sample, and shipping requirements. The completed form should accompany the samples you send for testing.

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