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Institute of Metabolic Disease at Baylor Research Institute Diseases and Related Tests   Select a Disease Alpha- Aminoadipic Acidemia (2-Oxoadipic aciduria) Argininemia: Arginase Deficiency (ARG) Arginosuccinic Aciduria or Argininosuccinate Lyase Deficiency (ASA) Aromatic L-amino decarboxylase (AADC) deficiency Beta Ketothiolase: Mitochondrial Methylacetoacetyl-CoA Thiolase Deficiency Biotinidase Deficiency Carbamylphosphate Synthetase Deficiency Canavan's Disease Carnosinase Deficiency Carnitine Palmitoyltransferase I Deficiency (CPTI) Carnitine Palmitoyltransferase II Deficiency (CPTII) Carnitine/Acylcarnitine Translocase Deficiency (CACT) Carnitine Transport Defect or Carnitine Uptake Disorder (CTD or CUD) Cerebral Folate Deficiency (CFD) Citrullinemia Type I: Arginiosuccinate Synthetase Deficiency (CIT I) Citrullinemia Type II: Citrin Deficiency (CIT II) Dihydrolipoyl Dehydrogenase (E3) Deficiency Dihydropteridine Reductase (DHPR) Deficiency Dopamine Beta Hydroxylase (DBH) Deficiency Dopa Responsive Dystonia Ethylmalonic Encephalopathy (EMA ENC) Fumarase Deficiency Glutaric Aciduria Type I (GAI) Glutaric Aciduria Type II Guanosine-triphosphate Cyclohydroxylase I (GTPCH) Deficiency Hawkinsinuria Histidinemia Holocarboxylase Synthetase Deficiency: Multiple Carboxylase Deficiency (HCS or MCD) Homocystinuria: Cystathionine Beta Synthease Deficiency (HCYS) 4-Hydroxybutyric Aciduria (4HBA) 2-Hydroxyglutaric Aciduria (does not distinguish D and L forms) 3-Hydroxy-3-methylglutaric aciduria: 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency Hyper-β-alaninemia Hyperammonemia, Hyperornithinemia, Homocitrullinuria (HHH) Hyperhydroxyprolinemia Hyperlysinemia Hyperornithinemia Hyperphenylalaninemia Hyperprolinemia Type I Hyperprolinemia Type II Isobutyryl-CoA Dehydrogenase Deficiency: Isobutyrylglycinuria (IBCD or IBG) Isovaleric Acidemia: Isovaleryl-CoA Dehydrogenase Deficiency (IVA) Long-chain Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency Malonic Aciduria: Malonyl-CoA Decarboxylase Deficiency (MAL) Maple Syrup Urine Disease (MSUD) Medium-chain acyl-CoA Dehydrogenase (MCAD) Deficiency Methionine Adenosyl Transferase Deficiency (MAT): Hypermethioninemia 2-Methylbutyryl-CoA dehydrogenase Deficiency: 2-Methylbutyrylglycinuria (2-MBCD or 2MBG) 3-Methylcrotonyl-CoA Carboxylase (3MCC) Deficiency 3-Methylglutaconic Aciduria Type I: 3-methylglutaconyl-CoA Hydratase Deficiency (3-MGA type I) Methylenetetrahydrofolate Reductase (MTHFR) Deficiency Methylmalonic Acidemia: Methylmalonyl-CoA mutase Deficiency (MMA or MUT) Mevalonate Kinase Deficiency (Intermittent Fever Syndrome) Mevalonic Aciduria Mitochondrial Trifunctional Protein Deficiency (TFP or MTP) Nonketonic Hyperglycinemia (NKH) Orotic Aciduria 5-Oxoprolinuria: Glutathione Synthetase Deficiency: 5-Oxoprolinase Deficiency (5OXOPRO) Phenylketonuria (PKU) or Hyperphenylalaninemia Propionic Acidemia: Propionyl-CoA Carboxylase Defiency (PA or PROP) 6-Pyruvoyl-tetrahydropterin Synthase (PTPS) Deficiency Sepiapterin Reductase (SR) Deficiency Short-Chain acyl-CoA Dehydrogenase (SCAD) Deficiency Succinic Semialdehyde Dehydrogenase (SSDH) Deficiency Tyrosine Hydroxylase (TH) Deficiency Tyrosinemia Type I (TYR I) Tyrosinemia Type II (TYR II) Tyrosinemia Type III (TYR III) Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Vitamin B-12 Disorders (Cobalamin Defects)

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