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Institute of Metabolic Disease at Baylor Research Institute Clinical Tests The IMD 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 Palmitoyltransferase (CPTII) DNA Analysis (S113L) CPTII-DNA Analysis -Panel of 8 mutations CPTII- Unknown Mutation Detection by DNA Sequencing Carnitine Palmitoyltransferase (CPTII) Enzyme Assay Carnitine Levels C4 Acylcarnitine Isomers C5 Acylcarnitine Isomers 5-Methyltetrahydrofolate (MTHF) Glutaric Acid Homocysteine -total Lactate in CSF LCHAD (C1528) DNA Analysis MCAD DNA Analysis (A985G)      MCAD DNA Analysis -Panel of 8 mutations MCAD- Unknown Mutation Detection by DNA Sequencing Methylmalonic Acid Mitochondrial Beta Oxidation Defects Monoamine Neurotransmitter Metabolites (HVA, 3-OMD and 5-HIAA) N-Acetylasparatic Neopterin Orotic Acid Succinylacetone Supplemental Newborn Screening Tetrahydrobiopterin (BH4) & Neopterin (N) profile Urine Organic Acids

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