HISTORY

The Biochemical Genetics laboratory, located at the Kennedy Krieger Institute in Baltimore Maryland, was established in 1968 to provide specialized services and techniques for the diagnosis and/or management of patients with inherited disorders associated with mental retardation and/or developmental abnormalities. These services are provided for the staffs of the Kennedy Krieger Institute, The Johns Hopkins Hospital and members of medical and genetics communities throughout the United States and abroad. While not limited to these tests, areas of special interest and expertise include disorders affecting the metabolism of amino acids, organic acids, fatty acids, very long chain fatty acids and cholesterol. Our faculty and staff have also played a major role in the diagnosis of, and study of, peroxisomal and lysosomal storage diseases. Among many specific diseases for which we offer testing are: X-linked adrenoleukodystrophy, Zellweger syndrome, Tay Sachs disease, and Smith-Lemli-Opitz syndrome.

The laboratory is certified by the Department of Health and Human Services under CLIA ID # 21D0649789, accedited by JCAHO organization ID # 6252 and licensed by the State of Maryland lab permit # 802. The Kennedy Krieger Institute's EIN # is 52-0607971. The laboratory staff participates in the quality assurance and proficiency testing program (Biochemical Genetics Survey) offered by the College of American Pathologists and the European Research Network for Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism (ERNDIM). The laboratory also participates in the proficiency testing program for Tay Sachs disease testing of serum and white blood cells offered by the National Tay-Sachs and Allied Diseases Association.

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