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.

Contact Information


Kennedy Krieger Institute Genetics Laboratories
707 North Broadway
Room 500R
Baltimore, MD 21205

Billing Information:

Kennedy Krieger Institute Genetics Lab Billing Department
Attn: Ann Snitcher
Phone: (443) 923-2788
Fax: (443) 923-2755

Tax ID: 52-1524965
NPI Number1649595141


As of May 1, 2017, we will no longer be offering peroxisomal testing in skin fibroblasts. We will continue to offer prenatal testing in cultured cells.

The laboratory was recently reaccredited by CAP. This accreditation extends through June 30, 2019.