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)
- 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.
Kennedy Krieger Institute Genetics Laboratories
707 North Broadway
Baltimore, MD 21205
Kennedy Krieger Institute Genetics Lab Billing Department
Attn: Ann Snitcher
Phone: (443) 923-2788
Fax: (443) 923-2755
Tax ID: 52-1524965
NPI Number: 1649595141
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.
As of July 1, 2015, all cytogenetics testing has been transferred to Johns Hopkins Hospital. For more information about cytogenetics testing, please contact them at 443-923-2785.