PA Newborn Screening Condition List 5.24.2021
Newborn Screening Mandated Screening Panel and Supplemental Mandated Screening PanelConditions Mandated for Screening and Follow-up by PA Newborn Screening ProgramPKUPhenylketonuriaMSUDMaple Syrup Urine DisorderHb SS-DiseaseSickle Cell AnemiaCHCongenital HypothyroidismCAHCongenital Adrenal HyperplasiaGALTTransferase Deficient Galactosemia (Classical)GAAGlycogen Storage Disease Type II (Pompe Disease)MPS IMucopolysaccharidosis Type I (Hurler Syndrome)X-ALDX-linked AdrenoleukodystrophySMASpinal Muscular AtrophySupplemental Conditions Mandated for Screening by PA Submitters and Follow-up by PA Newborn Screen ProgramAcylcarnitine DisordersOrganic Acid DisordersIVAIsovaleric AcidemiaGA IGlutaric Acidemia Type IMCDMultiple Carboxylase DeficiencyMUTMethylmalonic Acidemia (Mutase Deficiency)3-MCC3-Methylcrotonyl-CoA Carboxylase DeficiencyCbl A,BMethylmalonic Acidemia (Cbl A,B)PROPPropionic Acidemia BKTBeta-Ketothiolase DeficiencyHMG3-Hydroxy-3Methlglutaric AciduriaFatty Oxidation DisordersMCADMedium Chain Acyl-CoA Dehydrogenase DeficiencyVLCADVery Long-Chain Acyl-CoA Dehydrogenase DeficiencyLCHADLong-Chain L-3-Hydroxy Acyl-CoA Dehydrogenase DeficiencyTFPTrifunctional Protein DeficiencyCUDCarnitine Uptake DefectAmino Acid DisordersHCYHomocystinuriaCITCitrullinemiaASAArgininosuccinic AcidemiaTYRTyrosinemia Type IHemoglobinopathiesHb SC-DiseaseSickle-C DiseaseHb SS-Beta ThalessemiaLysosomal Storage DisordersGALCGloboid Cell Leukodystrophy (Krabbe Disease)OthersBIOBiotinidase DeficiencyCFCystic FibrosisSCIDSevere Combined ImmunodeficiencyPoint of Care TestingCCHDCritical Congenital Heart DefectsHEARNewborn Hearing ScreeningMedical Disorders that can be Detected in the Differential Diagnosis of a Core DisorderOrganic Acid DisordersCBL C,DMethylmalonic Acidemia With HomocystinuriaMALMalonic AcidemiaIBGIsobutyrylglycinuria 2 MBG2-Methylbutyrylglycinuria3 MBA3-Methylglutaconic Aciduria2M3HBA2-Methyl-3-Hydroxybutyric AciduriaFatty Acid Oxidation DisordersSCADShort-Chain Acyl-CoA Dehydrogenase DeficiencyM/SCHADMedium/Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase DeficiencyGA2Glutaric Acidemia Type IIMCATMedium-Chain Ketoacyl-CoA Thiolase DeficiencyDE RED2,4 Dienoyl-CoA Reductase DeficiencyCPT IACarnitine Palmitoyltransferase Type I DeficiencyCPT IICarnitine Palmitoyltransferase Type II DeficiencyCACTCarnitine Acylcarnitine Translocase DeficiencyAmino Acid DisordersARGArgininemiaCIT IICitrullinemia Type IIMETHypermethioninemiaH-PHEBenign HyperphenylalaninemiaBIOPT (BS)Biopterin Defect in Cofactor BiosynthesisBIOPT (REG)Biopterin Defect in Cofactor RegenerationTYR IITyrosinemia Type IITyr IIITyrosinemia Type IIIHemoglobinopathiesHGB D, E, OHemoglobin Point Mutation Testing Detects Hemoglobin D, E, and OOther DisordersGALEGalactoepimerase DeficiencyGALKGalactokinase Deficiency*T-Cell related lymphocyte deficiencies may be identified by screening for SCID. ................
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