| HMGCL | 1p36.1-p35 | 3-hydroxy-3- methylglutaryl-CoA lyase deficiency (HMG) | Organic Acid Disorder | Core |
| ACAT1 | 11q22.3 | Beta-ketothiolase deficiency (?KT) | Organic Acid Disorder | Core |
| GLA | Xq22 | Fabry disease | New Additions | New Additions |
| GALT | 9p13 | Galactosemia Type I | Other Disorders | Core |
| GALC | 14q31 | Krabbe Disease | New Additions | New Additions |
| HLCS | 21q22.13 | Multiple Carboxylase Deficiency (MCD) | Organic Acid Disorder | Core |
| HBB | 11p15.5 | (I ) Sickle cell disease (II) Metheglobinemia, beta-globin type (III) Beta thalassemia: thalassemia major and thalassemia intermedia | Hemoglobin Disorders | Core |
| MMACHC | 1p34.1 | (I) Methylmalonic acidemia (cblC) (II) Homocystinuria (HCY) | Organic Acid Disorder | Core |
| MMADHC | 2q23.2 | (I) Methylmalonic acidemia (cblD) (II) Homocystinuria (HCY) | Organic Acid Disorder | Core |
| DECR 1 | 8q21.3 | 2,4 Dienoyl-CoA reductase deficiency | New Additions | New Additions |
| ACADSB | 10q26.13 | 2-methylbutyryl- CoA Dehydrogenase deficiency | Organic Acid Disorder | Secondary |
| CYP21A2 | 6p21.3 | 21-hydroxylase Deficiency (CAH | Endocrine Disorders | Core |
| HSD17B10 | Xp11.2 | 3-hydroxy-2- methylbutyryl- CoA Dehydrogenase deficiency (2M3HBA) | Organic Acid Disorder | Secondary |
| HADH | 4q22-q26 | 3-hydroxyacyl-CoA Dehydrogenase deficiency (M/SCHAD) | Fatty Acid Disorder | Secondary |
| MCCC1 | 3q27 | 3-methylcrotonyl- CoA carboxylase deficiency (3-MCC) | Organic Acid Disorder | Core |
| MCCC2 | 5q12-q13 | 3-methylcrotonyl- CoA carboxylase deficiency (3-MCC) | Organic Acid Disorder | Core |
| AUH | 9q22.31 | 3-methylglutaconic aciduria (3MGA) Type I | Organic Acid Disorder | Secondary |
| OPA3 | 19q13.32 | 3-methylglutaconic aciduria (3MGA) Type I | Organic Acid Disorder | Secondary |
| TAZ | Xq28 | 3-methylglutaconic aciduria (3MGA) Type I | Organic Acid Disorder | Secondary |
| DNAJC19 | 3q26.33 | 3-methylglutaconic aciduria (3MGA) Type V | Organic Acid Disorder | Secondary |
| HBA1 | 16p13.3 | Alpha Thalassemia (Hemoglobin Disorder-Var- Hb) | Hemoglobin Disorders | Secondary |
| HBA2 | 16p13.3 | Alpha Thalassemia (Hemoglobin Disorder-Var- Hb) | Hemoglobin Disorders | Secondary |
| ARG1 | 6q23 | Arginase deficiency (ARG) | Amino Acid Disorders | Secondary |
| ASL | 7q11.21 | Argininosuccinic aciduria (ASA) | Amino Acid Disorders | Core |
| BTD | 3p25 | Biotinidase deficiency (BIOT) | Other Disorders | Core |
| CPT1A | 11q13.2 | Carnitine Palmitoyltransferase I deficiency (CPT IA) | Fatty Acid Disorder | Secondary |
| CPT2 | 1p32 | Carnitine Palmitoyltransferase II deficiency (CPT II) | Fatty Acid Disorder | Secondary |
| SLC25A20 | 3p21.31 | Carnitine- Acylcarnitine translocase (CACT) | Fatty Acid Disorder | Secondary |
| ASS1 | 9q34.1 | Citrullinemia (CIT) Type I | Amino Acid Disorders | Core |
| SLC25A13 | 7q21.3 | Citrullinemia Type II (CIT II) | Amino Acid Disorders | Secondary |
| DUOX2 | 15q15.3 | Congenital Hypothyroidism (CH) | Endocrine Disorders | Core |
| PAX8 | 2q13 | Congenital Hypothyroidism (CH) | Endocrine Disorders | Core |
| SLC5A5 | 19p13.11 | Congenital Hypothyroidism (CH) | Endocrine Disorders | Core |
| TG | 8q24 | Congenital Hypothyroidism (CH) | Endocrine Disorders | Core |
| TPO | 2p25 | Congenital Hypothyroidism (CH) | Endocrine Disorders | Core |
| TSHB | 1p13 | Congenital Hypothyroidism (CH) | Endocrine Disorders | Core |
| TSHR | 14q31 | Congenital Hypothyroidism (CH) | Endocrine Disorders | Core |
| CFTR | 7q31.2 | Cystic fibrosis (CF) | Other Disorders | Core |
| PCBD1 | 10q22 | Disorders of Biopterin regeneratio | Amino Acid Disorders | Secondary |
| GCH1 | 14q22.1- q22.2 | Disorders of Biopterin regeneration | Amino Acid Disorders | Secondary |
| PTS | 11q22.3 | Disorders of Biopterin regeneration | Amino Acid Disorders | Secondary |
| QDPR | 4p15.31 | Disorders of Biopterin regeneration | Amino Acid Disorders | Secondary |
| GALK1 | 17q24 | Galactosemia Type II | Other Disorders | Secondary |
| GALE | 1p36-p35 | Galactosemia Type III | Other Disorders | Secondary |
| GBA | 1q21 | Gaucher disease (Types I, II, & III) | New Additions | New Additions |
| G6PD | Xq28 | Glucose-6- Phosphate dehydrogenase deficiency | Hemoglobin Disorders | Secondary |
| ETFA | 15q23-q25 | Glutaric acidemia type II (GA2) | Fatty Acid Disorder | Secondary |
| ETFB | 19q13.3 | Glutaric acidemia type II (GA2) | Fatty Acid Disorder | Secondary |
| ETFDH | 4q32-q35 | Glutaric acidemia type II (GA2) | Fatty Acid Disorder | Secondary |
| GCDH | 19p13.2 | Glutaric acidemia Type 1 (GA1) | Organic Acid Disorder | Core |
| GJB2 | 13q11-q12 | Hearing Loss Nonsyndromic Deafness (2) Palmoplantar Karatoderma (3) Hystrix-like Ichthyosis (4) Bart-Pumphrey Syndrome (5) Vohwinkel syndrome (6) Karatitis-ichthyosis- deafness (KID) | Other Disorders | Core |
| GJB6 | 13q12 | Hearing Loss (1) Nonsyndromic Deafness Clouston syndrome | Other Disorders | Core |
| GJB3 | 1p34 | Hearing Loss Nonsyndromic Deafness (2) Erythrokeratodermia variabilis et progressive (EKVP) | Other Disorders | Core |
| CBS | 21q22.3 | Homocystinuria (HCY) | Amino Acid Disorders | Core |
| MTHFR | 1p36.3 | Homocystinuria (HCY) | Amino Acid Disorders | Core |
| MTR | 1q43 | Homocystinuria (HCY) | Amino Acid Disorders | Core |
| MTRR | 5p15.31 | Homocystinuria (HCY) | Amino Acid Disorders | Core |
| AHCY | 20q11.22 | Hypermethioninemia (MET) | Amino Acid Disorders | Secondary |
| GNMT | 6p12 | Hypermethioninemia (MET) | Amino Acid Disorders | Secondary |
| MAT1A | 10q22 | Hypermethioninemia (MET) | Amino Acid Disorders | Secondary |
| ACAD8 | 11q25 | Isobutyryl-CoA Dehydrogenase (IBD) deficiency | Organic Acid Disorder | Core |
| IVD | 15q14-q15 | Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly | Organic Acid Disorder | Core |
| MLYCD | 16q24 | Malonyl-CoA Decarboxylase deficiency (MAL) | Organic Acid Disorder | Secondary |
| BCKDHA | 19q13.1- q13.2 | Maple Syrup Urine Disease (MSUD) | Amino Acid Disorders | Core |
| BCKDHB | 6q14.1 | Maple Syrup Urine Disease (MSUD) | Amino Acid Disorders | Core |
| DBT | 1p31 | Maple Syrup Urine Disease (MSUD) | Amino Acid Disorders | Core |
| DLD | 7q31-q32 | Maple Syrup Urine Disease (MSUD) | Amino Acid Disorders | Core |
| ACADM | 1p31 | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | Fatty Acid Disorder | Core |
| MUT | 6p12.3 | Methylmalonic acidemia (MUT) | Organic Acid Disorder | Core |
| MCEE | 2p13.3 | Methylmalonic acidemia | Organic Acid Disorder | Core |
| MMAA | 4q31.21 | Methylmalonic acidemia (cblA) | Organic Acid Disorder | Core |
| MMAB | 12q24 | Methylmalonic acidemia (cblB) | Organic Acid Disorder | Core |
| IDUA | 4p16.3 | Mucopolysaccharidosis Type I (MPS I) | New Additions | New Additions |
| SMPD 1 | 11p15.4 | Niemann-Pick disease (Type A & B) | New Additions | New Additions |
| NPC1 | 18q11.2 | Niemann-Pick disease (Type C1) | New Additions | New Additions |
| NPC2 | 14q24.3 | Niemann-Pick disease (Type C2) | New Additions | New Additions |
| OTC | Xp21.1 | Ornithine Transcarbamylase Deficiency (OTC) | Amino Acid Disorders | Core |
| PAH | 12q22- q24.2 | Phenylketonuria (PKU) | Amino Acid Disorders | Core |
| GAA | 17q25.2-25.3 | Pompe disease (GAA deficiency | New Additions | New Additions |
| SLC22A5 | 5q23.3 | Primary carnitine deficiency (CUD) | Fatty Acid Disorder | Core |
| PCCA | 13q32 | Propionic acidemia (PROP) | Organic Acid Disorder | Core |
| PCCB | 3q21-q22 | Propionic acidemia (PROP) | Organic Acid Disorder | Core |
| ADA | 20q13.12 | Severe combined Immunodeficiency (SCID) | Other Disorders | Core |
| ACADS | 12q24.31 | Short-chain acyl- CoA dehydrogenase (SCAD) deficiency | Fatty Acid Disorder | Secondary |
| HADHA | 2p23 | Trifunctional protein deficiency (TFP) | Fatty Acid Disorder | Core |
| HADHB | 2p23 | Trifunctional protein deficiency (TFP) | Fatty Acid Disorder | Core |
| FAH | 15q25.1 | Tyrosinemia (TYR I, II, III) | Amino Acid Disorders | Core |
| HPD | 12q24.31 | Tyrosinemia (TYR I, II, III) | Amino Acid Disorders | Secondary |
| TAT | 16q22.1 | Tyrosinemia (TYR I, II, III) | Amino Acid Disorders | Secondary |
| ACADVL | 17p13.1 | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | Fatty Acid Disorder | Core |
| ABCD 1 | Xq28 | X-linked Adrenoleukodystrophy Adrenomyeloneuropath y Addison disease (X- ALD) | New Additions | New Additions |
| IL2RG | Xq13.1 | X-linked severe Combined immunodeficiency (SCID) | Other Disorders | Core |
