7101 Wisconsin Ave, Suite 1101, Bethesda, MD 20814
301-718-9603

Expected NBS Cases

Review the annual cases for newborn screening disorders by state.

StateAnnual BirthsPropionic AcidemiaMethylmalonic Acidemia (methylmalonyl-CoA mutase)Methylmalonic Acidemia (Cobalamin disorders)Isovaleric Acidemia3-Methylcrotonyl-CoA Carboxylase Deficiency3-Hydroxy-3-Methyglutaric AciduriaHolocarboxylase Synthase Deficiencyß-Ketothiolase DeficiencyGlutaric Acidemia Type ICarnitine Uptake Defect/Carnitine Transport DefectMedium-chain Acyl-CoA Dehydrogenase DeficiencyVery Long-chain Acyl-CoA Dehydrogenase DeficiencyLong-chain L-3 Hydroxyacyl-CoA Dehydrogenase DeficiencyTrifunctional Protein DeficiencyArgininosuccinic AciduriaCitrullinemia, Type IMaple Syrup Urine DiseaseHomocystinuriaClassic PhenylketonuriaTyrosinemia, Type IPrimary Congenital HypothyroidismCongenital adrenal hyperplasiaS,S Disease (Sickle Cell Anemia)S, βeta-ThalassemiaS,C DiseaseBiotinidase DeficiencyCritical Congenital Heart DiseaseCystic FibrosisClassic GalactosemiaGlycogen Storage Disease Type II (Pompe)Hearing LossSevere Combined ImmunodeficienciesMucopolysaccharidosis Type 1X-linked AdrenoleukodystrophySpinal Muscular Atrophy due to homozygous deletion of exon 7 in SMN1Methylmalonic acidemia with homocystinuriaMalonic acidemiaIsobutyrylglycinuria2-Methylbutyrylglycinuria3-Methylglutaconic aciduria2-Methyl-3-hydroxybutyric aciduriaShort-chain acyl-CoA dehydrogenase deficiencyMedium/short-chain L-3-hydroxyacyl- CoA dehydrogenase deficiencyGlutaric acidemia type IIMedium-chain ketoacyl-CoA thiolase deficiency2,4 Dienoyl-CoA reductase deficiencyCarnitine palmitoyltransferase type I deficiencyCarnitine palmitoyltransferase type II deficiencyCarnitine acylcarnitine translocase deficiencyArgininemiaCitrullinemia, type IIHypermethioninemiaBenign hyperphenylalaninemiaBiopterin defect in cofactor biosynthesisBiopterin defect in cofactor regenerationTyrosinemia, type IITyrosinemia, type IIIVarious other hemoglobinopathiesGalactoepimerase deficiencyGalactokinase deficiencyT-cell related lymphocyte deficienciesGuanidinoacetate methyltransferase (GAMT) deficiencyNeonatal hyperbilirubinemia (acute bilirubin encephalopathy)Galactocerebrosidase deficiency (Krabbe Disease)Sphingomyelinase deficiency (Niemann Pick Disease)Spinal muscular atrophy (Werdnig-Hoffman disease)Chromosome 22q11.2 deletion (Di George syndrome)Hemoglobin H (Bart)Lysosomal acid lipase deficiency (Wolman disease)Branched-chain ketoacid dehydrogenase kinasePyruvate dehydrogenase lipoic acid synthetaseCarbonic anhydrase VA deficiencyPyruvate carboxylase deficiencyProximal urea cycle defectsN(5,10)-Methylene tetrahydrofolate reductase3-phosphoglycerate dehydrogenase deficiencyCongenital Cytomegalovirus infectionCongenital Human immunodeficiency virus infectionCongenital Toxoplasmosis infectionGlucocerebrosidase deficiency (Gaucher disease)GalactosialidosisMetachromatic leukodystrophyIduronate 2-sulfatase deficiency (MPSII)Heparan sulfate sulfatase deficiency (San Filippo)Alpha-N-acetylglucosaminidase deficiencyGalactosamine 6-sulfatase deficiency (Morquio)Arylsulfatase B deficiency (Maroteaux-Lamy syndrome) (MPS VI)Beta-glucuronidase deficiency (Sly syndrome) (MPS VII)Friedreich ataxiaHepatolenticular degeneration (Wilson disease)Copper transport disease (Menkes disease)Molybdenum cofactor deficiencyTripeptidyl peptidase 1 deficiency (Neuronal Ceroid Lipofuscinosis 2)Familia hypercholesterolemiaSmith Lemli Opitz syndromeCerebrotendineous xanthomatosisTOTAL
Alabama58941111011101142001100511746241121511591136100000100000000003000030130010615400000200236091010000001210311810568
Alaska1044500000000001000000010311010230010001100000000000000000000001001000013100000000420200000000000000210097
Arizona818721110211021530011007123593511720228211581000001000000000040000401400108205000003003270131010000002311416420783
Arkansas3752011101000103100110030113412189113810241000001000000000020000200200004930000010015006100000000110027510362
California471658966211550125311610783238513531501529898118101247285284761100070200010202210020240524005247118313000216001887073605010012121653229431204548
Colorado643821110111021420011005118472411316126411461000001000000000030000301300106164000002002580101010000002210312920617
Connecticut3522110001000102100110030102412179113510240000001000000000020000200200004920000010014105000000000110027010335
Delaware10855000000000010000000103110102300110011000000000000000000000010010000131000000004302000000000000012200101
District of Columbia956000000000001000000010311010220010001100000000000000000000000000000012100000000380100000000000000190086
Florida2236304331523062157103411182641524714447565622442132230100030100000101100010110211002122561510001800895034302000001672110447602153
Georgia1292432221311031940022111013791448227323312921813200000201000000016001060160011133291000140051702020100000134116258301243
Guam3297000000000000000000001000001100300000000000000000000000000000000000100000000013010000000000000070028
Hawaii17517000000000011000000105121104400180012000000000000000001000010010000241000001007003000000000010013500163
Idaho22181000010001011000000206121105601220012000000000000000001000010010000261000001008903000000000110014410207
Illinois1493903221312041105002311121431016592313734149319152000002010000000170010701700111537101000150059802320100000145117299401437
Indiana821701110211021530011007123593511721228211581000001000000000040000401400108215000003003290131010000002311416420787
Iowa384301110100010310011003011341218101138102410000010000000000200002002000041030000010015406100000000110027710370
Kansas3651910001000102100110030102412189113710240000001000000000020000200200004920000010014606000000000110027310347
Kentucky54752111011101142001100411646231111411551135100000100000000002000030130010514400000200219081010000001210311010529
Louisiana61018111011102142001100511746241131512611146100000100000000003000030130010615400000200244091010000002210312220588
Maine12298000000000010000000104110103300120011000000000000000001000010010000131000000004902000000000000012500114
Maryland716411110211021520011006120582411518227211471000001000000000030000401400107185000002002870111010000002210314320688
Massachusetts707021110211021520011006120572411518227111471000001000000000030000401400107185000002002830111010000002210314120680
Michigan111426211031103174002210913271237223282311121711100000200000000005000060160010112871000040044601710100000034115223301068
Minnesota685951110211021520011005120572411417226911471000001000000000030000301300107175000002002740111010000002210313720659
Mississippi3735710001000102100110030112412189113710240000001000000000020000200200004920000010014906000000000110027510353
Missouri730341110211021520011006121582511518227311471000001000000000030000401400107185000003002920111010000002210314620700
Montana11799000000000010000000103110102300120011000000000000000001000010010000131000000004702000000000000012400109
Nebraska258210000100010210000002072312056112600230000000000000000010000100100003620000010010304000000000110015210244
Nevada3575610001000102100110030102412179113610240000001000000000020000200200004920000010014306000000000110027210341
New Hampshire12116000000000010000000103110103300120011000000000000000001000010010000131000000004802000000000000012400111
New Jersey10125021102110317300121081297113622125231012161010000010000000000500005015001010257100003004050161010000003311520330971
New Mexico23767000010001021000000207231105611240012000000000000000001000010010000262000001009504000000000110014810226
New York2297374331523062158103411182661524714448575623042142330100030100000101100010110211002123571510001800919035302000001682211459602208
North Carolina1201252221311031840022101013481347225303312021712200000200000000005000060160010123081000040048101820100000034116240301153
North Dakota1073700000000001000000010311010230011001100000000000000000000001001000013100000000430200000000000000210099
Ohio1368322221312031950022111113991548229343313721814200000201000000016001070170011143491000150054702120100000135116274301316
Oklahoma50214111011101132001100411435231101311501135100000100000000002000030130010513300000200201081010000001210210010486
Oregon436311110101010310011003012351319111144103410000010000000000200002002000041130000020017507100000000110028710417
Pennsylvania1377453221312031950022111113991549229343313821814200000201000000016001070170011143491000150055102120100000135116275301324
Puerto Rico24310000010001021000000207231205611240012000000000000000001000010010000262000001009704000000000110014910230
Rhode Island1063800000000001000000010311010230011001100000000000000000000001001000013100000000430200000000000000210099
South Carolina57029111011101142001100511646241121411571136100000100000000003000030130010614400000200228091010000001210311410551
South Dakota12134000000000010000000103110103300120011000000000000000001000010010000131000000004902000000000000012400112
Tennessee810161110211021530011006123593511720228111581000001000000000040000401400108205000003003240121010000002311416220775
Texas38205075529440104251310572231410925401224680968103827422385110005020001010217002019041900423896252000213001528059504010002101343187641003685
Utah4858511101010103200110040143523110121149103510000010000000000200002002000051230000020019407100000000120029710462
Vermont56550000000000000000000020100011006000100000000000000000000000000000011000000000230100000000000000110049
Virginia10039121102110317300121081297113622125231002161010000010000000000500005015001010257100003004020151010000003311520130964
Washington875622110211021630012007125693511822228821591000001000000000040000401400109226100003003500131010000002311417520839
West Virginia18675000000000011000000105121104500190012000000000000000001000010010000251000001007503000000000010013700173
Wisconsin649751110211021420011005119472411416126511461000001000000000030000301300106164000002002600101010000002210313020624
Wyoming69030000000000000000001020100012007000100000000000000000000000000000012000000000280100000000000000140061
TOTAL3883107664949118836430973625812640556415103123611072584141202396180997083973886643623038749240005501000020501017600100196036196003610387970258160001012900155350600490360200110971263621182776597037240