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 adrenal hyperplasia - CAH Congenital hypothyroidism - CH Congenital Toxoplasmosis - TOXO 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-hyperammonemia-homocitrullinemia syndrome - HHH Hyperornithinemia with Gyrate Deficiency - Hyper ORN 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 II - MPS II Mucopolysaccharidosis I - MPS I 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 0-thalassemia - Hb S/B0Th S, Beta + thalassemia - Hb S/B+ Th S,C disease - Hb S/C Severe Combined Immunodeficiencies - SCID Short-chain acyl-CoA dehydrogenase deficiency - SCAD Spinal Muscular Atrophy - SMA S,S disease (Sickle cell anemia) - Hb SS T-cell related lymphocyte deficiencies Trifunctional protein deficiency - TFP Tyrosinemia, type III - TYR III Tyrosinemia, type II - TYR II Tyrosinemia, type I - TYR I Various other hemoglobinopathies - Var Hb Very long-chain acyl-CoA dehydrogenase deficiency - VLCAD X-linked Adrenoleukodystrophy Zellweger Syndrome Screening Method Screening Method All Methods Gene Sequencing American Academy of Pediatrics Protocol MS/MS derivatized MS/MS non-derivatized FIA IEF HPLC Spectrophotometry Colorimetry Immunoassay Enzymatic fluorometry Otoacoustic Emissions Auditory Brainstem Response Qpcr FL fluorometry digital microfluidics PCR based target mutation analysis DNA Other (please describe) Screening Target Screening Target All Targets C26:0 lysophosphatidylcholine (C26:0 LPC) ABCD1 gene C3 C4DC C5 C5-OH C6-DC C5:1 C5-DC C0 C8 C6 C10:1 C10 C14:2 C14:1 C14 C16:1-OH C16-OH C18:1-OH C18-OH Citrulline ASA cit/arg ratio Leucine Valine alloisoleucine Leu/Phe ratio Methionine Met/Phe ratio Phenylalanine Phe/Tyr ratio Tyrosine SUAC C3-DC C4 C4-OH C16 C12 C10:2 C18 C18:2 C18:1 Arginine Ornithine Proline MMA T4 TSH 17-OHP Hemoglobin Enzyme Biotin-p-aminobenzoic acid Biotinadase immunoreactive trypsinogen (IRT) Galactose-1-phosphate (G1P) uridyltransferase G1P OAE ABR Right & Left ear TREC IgG antibodies Total Galactose Panel of CFTR mutations PAP Other (please describe) Equipment Equipment All Equipments Automated Auditory Brainstem (AABR) Otoacoustic Emissions (OAE) Pulse oximetry PerkinElmer MS/MS Waters Quattro Micro TQDs PerkinElmer NeoBase NeoGram AA NeoGram AC Luminex Astoria-Pacific Bio-Rad Variant PerkinElmer RESOLVE System Laboratory Developed Test (LDT) PerkinElmer AutoDelfia PerkinElmer GSP Other (please describe) 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
