Metabolic Disease Diagnostic Tests

Much of the research and tests provided by the Institute of Metabolic Disease at Baylor are not available anywhere else in the United States. For more information about these and other diagnostic tests performed by the Institute of Metabolic Disease at Baylor, call (214) 820-4533.

Mass Spectrometry Laboratory

• Carnitine Levels
• Acylcarnitine Profile (quantitative)
• Organic Acids (quantitative)

Tissue Culture Laboratory

• Branched-Chain Amino Acid Defects (quantitative)
• Mitochondrial Beta Oxidation Defects (quantitative)
• Peroxisomal Oxidation Defects (quantitative)
• Establish Cell Line from Amniotic Fluid
• Establish Cell Line from Skin Biopsy

Molecular Diagnostic Laboratory

• MCAD DNA
• LCHAD DNA
• Carnitine Acylcarnitine Translocase
• Carnitine Palmitolyltransferase II
• Isolate Lymphocytes

Neuropharmacology Laboratory

• Apo-Lipoprotein B
• Homocysteine
• Hs-C Reactive Protein
• Lipoprotein (A)
• Amino Acids
• Phenylalanine and Tyrosine (quantitative)
• Phenylalanine Loading Assay (for dopa-responsive dystonia)