Rapid Reflexive Testing to Support Diagnosis

 Timely, accurate diagnosis of genetic conditions

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Abnormal NBS Results

Traditional follow-up testing for abnormal NBS involves repeat metabolic testing often followed by genetic testing. Due to the nature of the analysis, it may be weeks before a formal diagnosis is reached. With Baby Genes, targeted sequencing provides rapid genetic information to allow for diagnosis within the first week of life. Together with the metabolic results, genetic sequencing results provide comprehensive and accurate answers for physicians and families.

Baby Genes in the NICU

Due to their poor metabolic state and administered medications, infants within the NICU are highly susceptible to false metabolic NBS results. NBS is often repeated multiple times during a child’s NICU stay in attempt to capture accurate metabolic results. By utilizing DNA as a testing source, Baby Genes provides accurate and reliable results for infants within the NICU. Through targeted sequencing, a supplement to conventional NBS is available for premature or ill infants.

 

 

Genes – Diseases – ICD-10 – CPT Codes

GeneICD CodeCPT Code(s)ConditionAlternative Condition NamesRelated AnalytesACT Sheet Reference
ABCD1E71.529, P09 (newborn)81405X-linked Adrenoleukodystrophy Adrenomyeloneuropathy Addison disease (X-ALD) Addison disease, cerebral sclerosis, Schilder disease, Siemerling-Creutzfeldt diseaseC26:0, C24:0 to C22:0 ratio, C26.0 to C22:0 ratio
ABCD4E71.120, E72.11, P09 (newborn)81405Methylmalonic acidemia with homocystinuriahomocystinemia, MMA, methylmalonic aciduria C3 Acylcarnitine
ACAD8E71.1, P09 (newborn)81406Isobutyryl-CoA dehydrogenase (IBD) deficiencyIBD deficiency, isobutyryl-coenzyme A dehydrogenase deficiency C4 Acylcarnitine
ACADME71.311, P09 (newborn)81406Medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyMCADD, MCADH deficiency C8, C6, C10 Acylcarnitinehttps://www.acmg.net/PDFLibrary/C8-C6-C10.pdf
ACADSE71.312, P09 (newborn)81405Short-chain acyl-CoA dehydrogenase (SCAD) deficiencydeficiency of butyryl-CoA dehydrogenase, SCADH deficiency C4 Acylcarnitinehttps://www.acmg.net/PDFLibrary/C4.pdf
ACADSBP09 (newborn)814062-methylbutyryl-CoA dehydrogenase deficiency (short/branched-chain acyl-CoA dehydrogenase deficiency)2-MBADD, 2-MBG, SBCADD,C5 Acylcarnitinehttps://www.acmg.net/PDFLibrary/C5.pdf
ACADVLE71.310, P09 (newborn)81406Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiencyacyl-CoA dehydrogenase very long chain deficiencyC14:1http://www.acmg.net/PDFLibrary/C14.pdf
ACAT1E72.8, P09 (newborn)81406Beta-ketothiolase  (BKT) deficiency2-alpha-methyl-3-hydroxybutyricacidemia, 3-alpha-ketothiolase deficiency, MAT deficiency, T2 deficiencyC5-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5-OH.pdf
ACSF3E71.19, P09 (newborn)81403Combined malonic and methylmalonic aciduria (CMAMMA) MMAurine malonic, methylmalonic acid 
ADAD81.3, D81.9, P09 (newborn)81406Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency T and B lymphocytehttps://www.acmg.net/PDFLibrary/SCID.pdf
AHCYE72.19, P09 (newborn)81405Hypermethioninemia (MET)Deficiency of methionine adenosyltransferase, MAT deficiency, S-adenosylhomocysteine hydrolase deficiency, glycine N-methyltransferase deficiencymethioninehttp://www.acmg.net/PDFLibrary/Methionine.pdf
ARG1E72.21, P09 (newborn)81405Arginase deficiency (ARG)Argininemia, Hyperargininemiaarginine http://www.acmg.net/PDFLibrary/Arginine.pdf
ASLE72.22, P09 (newborn)81406Argininosuccinic aciduria (ASA)Argininosuccinate lyase deficiency, Argininosuccinicaciduria, Argininosuccinyl-CoA lyase deficiencycitrullinehttp://www.acmg.net/PDFLibrary/Citrullinemia.pdf
ASPAE75.2981200Canavan diseaseACY2 deficiency, aminoacylase 2 deficiency, aspartoacylase deficiencyaspartoacylase, N-acetylaspartic acid
ASS1E72.23, P09 (newborn)81406Citrullinemia type ICITcitrullinehttp://www.acmg.net/PDFLibrary/Citrullinemia.pdf
AUHE71.111814053-methylglutaconic aciduria (3MGA) type I3-MG-CoA-hydratase deficiency, MGA1C5-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5-OH.pdf
BCKDHAE71.081405Maple syrup urine disease (MSUD)BCKD deficiency, branched-chain alpha-keto acid dehydrogenase deficiencyleucine, isoleucine, alloleucine, valinehttp://www.acmg.net/PDFLibrary/Leucine.pdf
BCKDHBE71.0, P09 (newborn)81406Maple syrup urine disease (MSUD)BCKD deficiency, branched-chain alpha-keto acid dehydrogenase deficiencyleucine, isoleucine, alloleucine, valinehttp://www.acmg.net/PDFLibrary/Leucine.pdf
BLMQ82.881209Bloom syndromeBloom-Torre-Machacek syndrome, congenital telangiectatic erythema-
BTDD81.810, P09 (newborn)81404Biotinidase deficiency (BIOT)late-onset biotin-responsive multiple carboxylase deficiencybiotinidase enzyme, C5-OH Acylcarnitinehttps://www.acmg.net/PDFLibrary/Biotinidase-Deficiency-ACT-Sheet.pdf http://www.acmg.net/PDFLibrary/C5-OH.pdf
CBSE72.11, P09 (newborn)81406Cystathionine beta-synthase deficiency (homocystinuria), Hyperhomocysteinemic thrombosishomocystinemiahomocystine, methioninehttp://www.acmg.net/PDFLibrary/Methionine.pdf
CD320E71.120, P09 (newborn)81404Methylmalonic acidemia due to transcobalamin receptor defectisolated methylmalonic acidemia, MMA C3 Acylcarnitine,  cobalamin 
CFTRE84.8, E84.9, P09 (newborn)81221, 81223, 81224Cystic fibrosis (CF)mucoviscidosisimmunoreactive trypsinogen (IRT), Sweat-Clhttps://www.acmg.net/PDFLibrary/Cystic-Fibrosis-ACT-Sheet.pdf
CPT1AE71.314, P09 (newborn)81406Carnitine palmitoyltransferase I deficiency (CPT IA)carnitine palmitoyltransferase IA deficiency, CPT 1A deficiencyC0, C16+C18https://www.acmg.net/PDFLibrary/Carnitine-Palmitoyltransferase-1-Deficiency-ACT-Sheet.pdf
CPT2E71.314, P09 (newborn)81404Carnitine palmitoyltransferase II deficiency (CPT II)CPT II deficiencyC16+C18https://www.acmg.net/PDFLibrary/Carnitine-Palmitoyltransferase-2-Deficiency-ACT-Sheet.pdf
CYP21A2E25.0, P09 (newborn)81405Congenital adrenal hyperplasia (CAH), Non-classic hyperandrogenism due to 21-hydroxylase deficiency21-hydroxylase deficiency, CYP21 deficiency17-OHPhttp://www.acmg.net/PDFLibrary/CAH.pdf
DBTE71.0, P09 (newborn)81405Maple syrup urine disease (MSUD)BCKD deficiency, branched-chain alpha-keto acid dehydrogenase deficiencyleucine, isoleucine, alloleucine, valinehttp://www.acmg.net/PDFLibrary/Leucine.pdf
DLDE71.0, P09 (newborn)81406Maple syrup urine disease (MSUD)BCKD deficiency, branched-chain alpha-keto acid dehydrogenase deficiencyleucine, isoleucine, alloleucine, valinehttp://www.acmg.net/PDFLibrary/Leucine.pdf
DNAJC19E71.111, P09 (newborn)814053-methylglutaconic aciduria (3MGA) type VMGA type VC5-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5-OH.pdf
DUOX2E03.0, E03.1, P09 (newborn)81407Congenital hypothyroidism (CH)congenital myxedema, cretinism, CHTTSHhttps://www.acmg.net/PDFLibrary/Primary-TSH-ACT-Sheet.pdf
ETFAE71.313, P09 (newborn)81406Glutaric acidemia type II (GA2)multiple acyl-CoA dehydrogenase deficiency, MADD, electron transfer flavoprotein deficiency, GA II, glutaric aciduria type 2C4;C5https://www.acmg.net/PDFLibrary/Glutaric-Aciduria-Type-2-ACT-Sheet.pdf
ETFBE71.313, P09 (newborn)81405Glutaric acidemia type II (GA2)multiple acyl-CoA dehydrogenase deficiency, MADD, electron transfer flavoprotein deficiency, GA II, glutaric aciduria type 2C4;C5https://www.acmg.net/PDFLibrary/Glutaric-Aciduria-Type-2-ACT-Sheet.pdf
ETFDHE71.313, P09 (newborn)81406Glutaric acidemia type II (GA2)multiple acyl-CoA dehydrogenase deficiency, MADD, electron transfer flavoprotein deficiency, GA II, glutaric aciduria type 2C4;C5https://www.acmg.net/PDFLibrary/Glutaric-Aciduria-Type-2-ACT-Sheet.pdf
FAHE70.21, P09 (newborn)81406Tyrosinemia type Ihypertyrosinaemia, hypertyrosinemiatyrosine, succinylacetonehttp://www.acmg.net/PDFLibrary/Tyrosine.pdf
FANCC* (Residual Risk is 1:8000)D61.0981242Fanconi anemia, complementation group C
FMR1*Q99.281243Fragile X Syndrome
G6PCE74.0181404Glycogen storage disease type Ia (GSDIa)glucose-6-phosphate deficiency, von Gierke diseaseglucose 6-phosphatase
G6PDD55.0, P09 (newborn)81406Glucose-6-phosphate dehydrogenase deficiencyG6PDDglucose-6-phosphate dehydrogenase 
GAAE74.02, P09 (newborn)81406Glycogen storage disease type II, (Pompe disease)acid maltase deficiency, AMDalpha-glucosidase enzymehttps://www.acmg.net/PDFLibrary/Pompe.pdf
GALCE75.23, P09 (newborn)81406Krabbe DiseaseDiffuse Globoid Body Sclerosis, Galactosylceramidase Deficiency Disease, GLDgalactosylceramidase enzymehttps://www.acmg.net/PDFLibrary/Krabbe.pdf
GALEE74.21, P09 (newborn)81406Galactose epimerase deficiency (galactosemia type III)UDP-galactose-4-epimerase deficiency diseasegalactose, GALT http://www.acmg.net/PDFLibrary/Galactose.pdf
GALK1E74.21, P09 (newborn)81405Galactokinase deficiency (galactosemia type II)GALK deficiencygalactose, GALThttp://www.acmg.net/PDFLibrary/Galactose.pdf
GALTE74.21, P09 (newborn)81406Classic galactosemia type Igalactose-1-phosphate uridyl-transferase deficiency diseasegalactose, GALThttp://www.acmg.net/PDFLibrary/GalactosePlusGALT.pdf
GBAE75.22, P09 (newborn)81251Gaucher disease (Types I, II, & III)cerebroside lipidosis syndromebeta-glucocerebrosidase enzymehttp://www.acmg.net/PDFLibrary/Gaucher.pdf
GCDHE72.3, P09 (newborn)81406Glutaric acidemia type I ,(GA1)Glutaric aciduria IC5-DC, C10-OH, C6-OHhttp://www.acmg.net/PDFLibrary/C5-DC.pdf
GCH1E70.1, G24.8, P09 (newborn)81405Tetrahydrobiopterin deficiency, DOPA-responsive dystonia BH4 deficiencyphenylalaninehttp://www.acmg.net/PDFLibrary/Phenylalanine.pdf
GJB2H91.90, P09 (newborn)81252, 81254, 81404Non-syndromic hearing lossisolated deafness, hearing impairment, Bart-Pumphrey Syndrome, Vohwinkel SyndromeHearing losshttp://www.acmg.net/PDFLibrary/Hearing-Loss-ACT-Sheet.pdf
GJB3H91.90, P09 (newborn)81252, 81254, 81404Non-syndromic hearing lossisolated deafness, hearing impairmentHearing losshttp://www.acmg.net/PDFLibrary/Hearing-Loss-ACT-Sheet.pdf
GJB6H91.9081252, 81254, 81405Non-syndromic hearing lossisolated deafness, hearing impairment, Clouston's syndromeHearing losshttp://www.acmg.net/PDFLibrary/Hearing-Loss-ACT-Sheet.pdf
GLAE75.21, P09 (newborn)81405Fabry diseasealpha-galactosidase A deficiencyalpha-galactosidase A enzyme http://www.acmg.net/PDFLibrary/Fabry.pdf
GNMTE72.19, P09 (newborn)81405Hypermethioninemia (MET)Deficiency of methionine adenosyltransferase, MAT deficiency, S-adenosylhomocysteine hydrolase deficiency, glycine N-methyltransferase deficiencymethioninehttp://www.acmg.net/PDFLibrary/Methionine.pdf
HADHE71.318, E16.1, P09 (newborn)814053-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD), Familial hyperinsulinemic hypoglycemia type 43-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency C4-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C4-OH.pdf
HADHAE71.310, E71.318, P09 (newborn)81406Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, Trifunctional protein deficiency (TFP)3-hydroxyacyl-CoA dehydrogenase, long chain, deficiencyC4-OH Acylcarnitine, C16-OH, C18http://www.acmg.net/PDFLibrary/LCHADD-ACT-Sheet.pdf
HADHBE71.318, P09 (newborn)81406Trifunctional protein deficiency (TFP)MTP deficiency C16-OH, C18http://www.acmg.net/PDFLibrary/LCHADD-ACT-Sheet.pdf
HBA1D56.0, P09 (newborn)81257Alpha thalassemia (Hemoglobin Disorder-Var-Hb)α-thalassemiaHb A, Hb Bart's, Hb C, Hb D, Hb E, Hb F, Hb O-ARAB, Hb S
HBA2D56.0, P09 (newborn)81257Alpha thalassemia (Hemoglobin Disorder-Var-Hb)α-thalassemiaHb A, Hb Bart's, Hb C, Hb D, Hb E, Hb F, Hb O-ARAB, Hb S
HBBD56.1, D56.9, D57.1, D57.2, D57.3, D57.40, D57.80, D58.2, P09 (newborn)81404Sickle cell disease, Beta thalassemiaHbS disease, SCD, erythroblastic anemia, Mediterranean anemia, microcytemiaHb A, Hb Bart's, Hb C, Hb D, Hb E, Hb F, Hb O-ARAB, Hb Shttp://www.acmg.net/PDFLibrary/Sickle-Cell-Anemia-HBss.pdf
HCFC1E71.120, E72.11, P09 (newborn)81407Methylmalonic acidemia with homocystinuriahomocystinemia, MMA, methylmalonic aciduriaC3 Acylcarnitine, homocysteine
HEXAE75.02, E75.0081255Tay-Sachs disease, GM2-gangliosidosisB variant GM2 gangliosidosis, Hexosaminidase A deficiencyβ-hexosaminidase enzyme
HLCSP09 (newborn)81405Holocarboxylase synthetase deficiency (MCD)Multiple Carboxylase DeficiencyC5-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5-OH.pdf
HMGCLE71.111, P09 (newborn)814053-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG-CoA lyase deficiency)3HMGC5-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5-OH.pdf
HPDE70.21, P09 (newborn)81406Tyrosinemia type III, Hawkinsinuriahypertyrosinaemia, hypertyrosinemiatyrosinehttp://www.acmg.net/PDFLibrary/Tyrosine.pdf
HSD17B10P09 (newborn)814052-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, Mental retardation X-linked syndromic 10 (MRXS10)2M3HBA, HSD10 deficiency, MHBD deficiency, 17β-hydroxysteroid dehydrogenase type 10 deficiencyC5-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5-OH.pdf
IDUAE76.01, P09 (newborn)81406Mucopolysaccharidosis type I (MPS I)Hurler syndrome, Hurler-Scheie syndromeL-iduronidase
IKBKAPG90.181260Familial dysautonomiaFD, HSAN Type III, Riley-Day SyndromeIκB kinase (IKAP) enzyme
IL2RGD81.9, P09 (newborn)81405X-linked severe combined immunodeficiency (SCID)IL2RG SCID, SCIDX1T and B lymphocyte
IVDE71.110, P09 (newborn)81406Isovaleric acidemia (IVA)Isovaleric acid-CoA dehydrogenase deficiencyC5 Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5.pdf
LMBRD1E71.120, E72.11, P09 (newborn)81405methylmalonic acidemia with homocystinuria, cblF type,
MAT1AE72.19, P09 (newborn)81405Hypermethioninemia (MET)Deficiency of methionine adenosyltransferase, MAT deficiency, S-adenosylhomocysteine hydrolase deficiency, glycine N-methyltransferase deficiencymethioninehttp://www.acmg.net/PDFLibrary/Methionine.pdf
MCCC1E72.09, P09 (newborn)814063-methylcrotonyl-CoA carboxylase deficiency (3-MCC)BMCC deficiency, 3-methylcrotonyl-coenzyme A carboxylase deficiencyC5-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5-OH.pdf
MCCC2E72.09, P09 (newborn)814063-methylcrotonyl-CoA carboxylase deficiency (3-MCC)BMCC deficiency, 3-methylcrotonyl-coenzyme A carboxylase deficiencyC5-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5-OH.pdf
MCEEE71.120, P09 (newborn)81404Methylmalonyl-CoA epimerase deficiencyC3 Acylcarnitine
MCOLN1E75.1181290Mucolipidosis type IVganglioside sialidase deficiency, MLIV
MLYCDE72.8, P09 (newborn)81404Malonyl-CoA decarboxylase deficiency (Malonic acidemia)malonic aciduria, MCD deficiencyC3-DC http://www.acmg.net/PDFLibrary/C3-DC.pdf
MMAAE71.120, P09 (newborn)81405Methylmalonic acidemia due to cobalamin disorder (cblA)MMA, methylmalonic aciduria C3 Acylcarnitinehttp://www.acmg.net/PDFLibrary/C3.pdf
MMABE71.120, P09 (newborn)81405Methylmalonic acidemia due to cobalamin disorder (cblB)MMA, methylmalonic aciduria C3 Acylcarnitinehttp://www.acmg.net/PDFLibrary/C3.pdf
MMACHCE71.120, E72.11, P09 (newborn)81404Methylmalonic acidemia and homocystinuria, cblC typehomocystinemia, MMA, methylmalonic aciduria C3 Acylcarnitinehttp://www.acmg.net/PDFLibrary/C3.pdf
MMADHCE71.120, P09 (newborn)81405Methylmalonic acidemia and homocystinuria, cblD typehomocystinemia, MMA C3 Acylcarnitinehttp://www.acmg.net/PDFLibrary/C3.pdf
MTHFRE72.11, P09 (newborn)81291Homocystinuria (HCY)homocystinemiahomocystine, methioninehttp://www.acmg.net/PDFLibrary/Methionine.pdf
MTRE72.11, P09 (newborn)81407Homocystinuria (HCY)homocystinemiahomocystinehttp://www.acmg.net/PDFLibrary/Methionine.pdf
MTRRE72.11, P09 (newborn)81406Homocystinuria (HCY)homocystinemiahomocystinehttp://www.acmg.net/PDFLibrary/Methionine.pdf
MUTE71.120, P09 (newborn)81406Methylmalonic acidemia (MUT)MMA, methylmalonic aciduria C3 Acylcarnitinehttp://www.acmg.net/PDFLibrary/C3.pdf
NPC1E75.242, P09 (newborn)81406Niemann-Pick disease (Type C1)sphingomyelin lipidosis, lipid histiocytosis, NPDLDL-derived cholesterol esterification (skin fibroblasts)http://www.acmg.net/PDFLibrary/Niemann-Pick.pdf
NPC2E75.242, P09 (newborn)81404Niemann-Pick disease (Type C2)sphingomyelin lipidosis, lipid histiocytosis, NPDLDL-derived cholesterol esterification (skin fibroblasts)http://www.acmg.net/PDFLibrary/Niemann-Pick.pdf
OPA3E71.111, P09 (newborn)814043-methylglutaconic aciduria (3MGA) type IC5-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5-OH.pdf
OTCE72.4, P09 (newborn)81405Ornithine transcarbamylase (OTC) deficiencyornithine transcarbamylase enzyme
PAHE70.0, E72.9, P09 (newborn)81406Phenylketonuria (PKU), Non-PKU hyperphenylalanemia (HPA)Folling Diseasephenylalaninehttp://www.acmg.net/PDFLibrary/Phenylalanine.pdf
PAX8E03.0, E03.1, P09 (newborn)81406Congenital hypothyroidism (CH)congenital myxedema, cretinism, CHTTSH, T4http://www.acmg.net/PDFLibrary/Primary-T4-Follow-Up-ACT-Sheet.pdf
PCBD1E70.1, P09 (newborn)81404Tetrahydrobiopterin deficiencyBH4 deficiencyphenylalaninehttp://www.acmg.net/PDFLibrary/Phenylalanine.pdf
PCCAE71.121, P09 (newborn)81406Propionic acidemia (PROP)ketotic glycinemia, propionicacidemia C3 Acylcarnitinehttp://www.acmg.net/PDFLibrary/C3.pdf
PCCBE71.121, P09 (newborn)81406Propionic acidemia (PROP)ketotic glycinemia, propionicacidemia C3 Acylcarnitinehttp://www.acmg.net/PDFLibrary/C3.pdf
PTSE70.1, P09 (newborn)81405Tetrahydrobiopterin deficiencyBH4 deficiencyphenylalaninehttp://www.acmg.net/PDFLibrary/Phenylalanine.pdf
QDPRE70.1, P09 (newborn)81405Tetrahydrobiopterin deficiencyBH4 deficiencyphenylalaninehttp://www.acmg.net/PDFLibrary/Phenylalanine.pdf
SLC22A5E71.41, P09 (newborn)81405Primary carnitine deficiency (CUD)carnitine uptake deficiency, CUD, carnitine transporter deficiencyC0http://www.acmg.net/PDFLibrary/Carnitine-Uptake-Defect-ACT-Sheet.pdf
SLC25A13E72.23, P09 (newborn)81406Citrullinemia type IICITcitrullinehttp://www.acmg.net/PDFLibrary/Citrullinemia.pdf
SLC25A20E71.448, P09 (newborn)81405Carnitine-acylcarnitine translocase (CACT) deficiency C16, C18http://www.acmg.net/PDFLibrary/Carnitine-Palmitoyltransferase-2-Deficiency-ACT-Sheet.pdf
SLC26A4E07.1, H91.9081406Pendred syndrome, Congenital Hearing Lossiodide organification, goiter, hearing impairment
SLC5A5E03.0, E03.1, P09 (newborn)81406Congenital hypothyroidism (CH)congenital myxedema, cretinism, CHTTSH, T4http://www.acmg.net/PDFLibrary/Primary-TSH-ACT-Sheet.pdf
SMN1* (Exon 7/8 deletion and silent allele haplotype)G12.918041Spinal muscular atrophy
SMPD1E75.240, E75.24181330Niemann-Pick disease (Types A & B)sphingomyelin lipidosis, lipid histiocytosis, NPDaccumulation of sphingomyelin in tissueshttp://www.acmg.net/PDFLibrary/Niemann-Pick.pdf
TATE70.21, P09 (newborn)81406Tyrosinemia type IIhypertyrosinaemia, hypertyrosinemiatyrosinehttp://www.acmg.net/PDFLibrary/Tyrosine.pdf
TAZE71.111, P09 (newborn)814063-methylglutaconic aciduria (3MGA) type I, Barth SyndromeMGA type IC5-OH Acylcarnitinehttp://www.acmg.net/PDFLibrary/C5-OH.pdf
TCN2D51.2, P09 (newborn)81405Transcobalamin deficiencyTC deficiencyhomocysteine,  C3 Acylcarnitine
TGE03.0, E03.1, P09 (newborn)81407Congenital hypothyroidism (CH)congenital myxedema, cretinism, CHTTSH, T4http://www.acmg.net/PDFLibrary/Primary-TSH-ACT-Sheet.pdf
THRAE03.0, E03.1, P09 (newborn)81405Congenital hypothyroidism (CH)congenital myxedema, cretinism, CHTTSH, T4http://www.acmg.net/PDFLibrary/Primary-TSH-ACT-Sheet.pdf
THRBE03.0, E03.1, P09 (newborn)81405Congenital hypothyroidism (CH)congenital myxedema, cretinism, CHTTSH, T4http://www.acmg.net/PDFLibrary/Primary-TSH-ACT-Sheet.pdf
TPOE03.0, E03.1, P09 (newborn)81406Congenital hypothyroidism (CH)congenital myxedema, cretinism, CHTTSH, T4http://www.acmg.net/PDFLibrary/Primary-TSH-ACT-Sheet.pdf
TSHBE03.0, E03.1, P09 (newborn)81404Congenital hypothyroidism (CH)congenital myxedema, cretinism, CHTTSH, T4http://www.acmg.net/PDFLibrary/Primary-TSH-ACT-Sheet.pdf
TSHRE03.0, E03.1, P09 (newborn)81405Congenital hypothyroidism (CH)congenital myxedema, cretinism, CHTTSH, T4http://www.acmg.net/PDFLibrary/Primary-TSH-ACT-Sheet.pdf