The Institute of Metabolic Disease provides the following clinical tests. Information on each test is available by clicking the name below of interest.

• Acylcarnitine Profile
• Acylglycines in Urine
• Amino Acids
• Carnitine Levels
• Everolimus/Zortress
• 5-Methyltetrahydrofolate (MTHF)
• Gamma-aminobutyric acid (GABA) in CSF - Free and Total
• Glutaric Acid
• Homocysteine - total
• Lactate in CSF
• Methylenetetrahydrofolate reductase C677T and A1298C mutation analysis
• Methylmalonic Acid
• Mitochondrial Beta Oxidation Defects
• Monoamine Neurotransmitter Metabolites (HVA, 3-OMD and 5-HIAA)
• N-Acetylasparatic
• Neopterin
• Orotic Acid
• Siroliumus
• Succinylacetone
• Supplemental Newborn Screening
• Tetrahydrobiopterin (BH4) & Neopterin (N) profile
• Urine Organic Acids