Metabolic Disease

Metabolic Diagnostic Laboratory

Our Metabolic Diagnostic Laboratory is a full-service laboratory specializing in the diagnosis of inborn errors of metabolism.

The Lab uses cutting-edge techniques of gas chromatography-mass spectrometry and nuclear magnetic resonance imaging for metabolite analysis and clinical diagnoses.

Enzymatic analyses in red and white blood cells, as well as cultured skin fibroblasts for diagnosis of enzyme-deficient disorders are available.

Our Metabolic Diagnostic Laboratory holds a CLIA Laboratory Certificate of Accreditation and is also accredited by the College of American Pathologists. In addition, the Lab is licensed by Pennsylvania and New York.

All reports include an interpretation and suggestions for further testing and treatment. Consultations are available with our staff to discuss the results.

Metabolic tests

Tests performed include:

For more information, please contact the Lab at 215-590-3394.

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