Screening Methodologies and Targets Report Select a condition Select a condition 2,4 Dienoyl-CoA reductase deficiency - DE RED 2-Methyl-3-hydroxybutyric aciduria - 2M3HBA 2-Methylbutyrylglycinuria - 2MBG 3-Hydroxy-3-methyglutaric aciduria - HMG 3-Methylcrotonyl-CoA carboxylase deficiency - 3-MCC 3-Methylglutaconic aciduria - 3MGA Argininemia - ARG Argininosuccinic aciduria - ASA Benign hyperphenylalaninemia - H-PHE Beta-Ketothiolase deficiency - BKT Biopterin defect in cofactor biosynthesis - BIOPT (BS) Biopterin defect in cofactor regeneration - BIOPT (RG) Biotinidase deficiency - BIOT Carbamoyl phosphate synthetase I deficiency - CPS Carnitine acylcarnitine translocase deficiency - CACT Carnitine palmitoyltransferase type I deficiency - CPT IA Carnitine palmitoyltransferase type II deficiency - CPT II Carnitine uptake defect/carnitine transport defect - CUD Citrullinemia, type I - CIT Citrullinemia, type II - CIT II Classic galactosemia - GALT Classic phenylketonuria - PKU Congenital Toxoplasmosis - TOXO Congenital adrenal hyperplasia - CAH Congenital hypothyroidism - CH Critical congenital heart disease - CCHD Cystic fibrosis - CF Cytomegalovirus - CMV Ethylmalonic encephalopathy - EME Fabry Formiminoglutamic acidemia - FIGLU Galactoepimerase deficiency - GALE Galactokinase deficiency - GALK Gaucher Glucose-6-phosphate dehydrogenase deficiency - G6PDD/G6PD Glutaric acidemia type I - GA1 Glutaric acidemia type II - GA2 Guanidinoacetate Methyltransferase - GAMT Hearing loss - HEAR Holocarboxylase synthetase deficiency - MCD Homocystinuria - HCY Human Immunodeficiency Virus - HIV Exposure Hypermethioninemia - MET Hyperornithinemia with Gyrate Deficiency - Hyper ORN Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome - HHH Isobutyrylglycinuria - IBG Isovaleric acidemia - IVA Krabbe Disease Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency - LCHAD Malonic acidemia - MAL Maple syrup urine disease - MSUD Medium-chain acyl-CoA dehydrogenase deficiency - MCAD Medium-chain ketoacyl-CoA thiolase deficiency - MCKAT Medium/short-chain L-3-hydroxyacl-CoA dehydrogenase deficiency - M/SCHAD Methylmalonic acidemia (cobalamin disorders) - Cbl A,B Methylmalonic acidemia (methylmalonyl-CoA mutase) - MUT Methylmalonic acidemia with homocystinuria - Cbl C,D Mucopolysaccharidosis I - MPS I Mucopolysaccharidosis II - MPS II Niemann Pick Nonketotic Hyperglycinemia - NKH Ornithine transcarbamylase deficiency - OTC Pompe Pompe - Inactive Prolinemia Type I/ Type II - PRO Propionic acidemia - PROP Pyroglutamic acidemia - 5-OXO S, Beta + thalassemia - Hb S/B+ Th S, Beta 0-thalassemia - Hb S/B0Th S,C disease - Hb S/C S,S disease (Sickle cell anemia) - Hb SS Severe Combined Immunodeficiencies - SCID Short-chain acyl-CoA dehydrogenase deficiency - SCAD Spinal Muscular Atrophy - SMA T-cell related lymphocyte deficiencies Trifunctional protein deficiency - TFP Tyrosinemia, type I - TYR I Tyrosinemia, type II - TYR II Tyrosinemia, type III - TYR III Various other hemoglobinopathies - Var Hb Very long-chain acyl-CoA dehydrogenase deficiency - VLCAD X-linked Adrenoleukodystrophy Zellweger Syndrome Screening Method Screening Method All Methods American Academy of Pediatrics Protocol Auditory Brainstem Response Colorimetry DNA Enzymatic fluorometry FIA FL Gene Sequencing HPLC IEF Immunoassay MS/MS derivatized MS/MS non-derivatized Other (please describe) Otoacoustic Emissions PCR based target mutation analysis Qpcr Spectrophotometry digital microfluidics fluorometry Screening Target Screening Target All Targets 17-OHP ABCD1 gene ABR ASA Arginine Biotin-p-aminobenzoic acid Biotinadase C0 C10 C10:1 C10:2 C12 C14 C14:1 C14:2 C16 C16-OH C16:1-OH C18 C18-OH C18:1 C18:1-OH C18:2 C26:0 lysophosphatidylcholine (C26:0 LPC) C3 C3-DC C4 C4-OH C4DC C5 C5-DC C5-OH C5:1 C6 C6-DC C8 Citrulline Enzyme G1P Galactose-1-phosphate (G1P) uridyltransferase Hemoglobin IgG antibodies Leu/Phe ratio Leucine MMA Met/Phe ratio Methionine OAE Ornithine Other (please describe) PAP Panel of CFTR mutations Phe/Tyr ratio Phenylalanine Proline Right & Left ear SUAC T4 TREC TSH Total Galactose Tyrosine Valine alloisoleucine cit/arg ratio immunoreactive trypsinogen (IRT) Equipment Equipment All Equipments Astoria-Pacific Automated Auditory Brainstem (AABR) Bio-Rad Variant Laboratory Developed Test (LDT) Luminex NeoGram AA NeoGram AC Other (please describe) Otoacoustic Emissions (OAE) PerkinElmer AutoDelfia PerkinElmer GSP PerkinElmer MS/MS PerkinElmer NeoBase PerkinElmer RESOLVE System Pulse oximetry TQDs Waters Quattro Micro State Condition Status First Screen: method => target Second Screen: method => target Equipment Sorry, the condition specified, null does not match a tracked condition. Please try typing 3 or 4 consecutive letters of the condition you are interested in and select from the list of possible conditions. Share
