Biochemical Disease Detection Laboratory

General Information

The Biochemical Disease Detection Laboratory performs a variety of tests on blood, urine, and spinal fluid to diagnose and manage metabolic diseases. These tests may be useful in the diagnosis of seizures, unexplained coma, hypotonia, developmental delay, poor growth, hypercoaguable states, anemia, and neuropathy. Telephone consultation is available for physicians to help determine the most appropriate testing.

Special services offered by this laboratory include:
  • Organic acid, amino acid, and fatty acid analyses in blood, urine, and other body fluids
  • Total homocysteine analysis
  • Acylcarnitine analysis for fatty acid oxidation disorders
  • Urine and plasma quantitative methylmalonic acid analysis
  • Urine acylglycine profile
  • Blood spot phenylalanine, tyrosine, branched chain amino acids and succinylacetone analyses

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Contact Us

General Information
Biochemical Disease Detection Laboratory Website
Sterling Hall of Medicine Sterling Hall of Medicine, C-Wing
333 Cedar Street
New Haven, CT 06510