Biochemical Testing

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

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

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.