Newborn Blood Screening Panel of Diseases
Amino Acid Disorders
Argininosuccinic acidemia
https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/
https://www.babysfirsttest.org/newborn-screening/conditions/argininosuccinic-aciduria
Citrullinemia type I and Type II
https://medlineplus.gov/genetics/condition/citrullinemia/
https://www.babysfirsttest.org/newborn-screening/conditions/citrullinemia-type-i
https://www.babysfirsttest.org/newborn-screening/conditions/citrullinemia-type-ii
Homocystinuria
https://medlineplus.gov/genetics/condition/homocystinuria/
https://www.babysfirsttest.org/newborn-screening/conditions/homocystinuria
Hypermethioninemia
https://medlineplus.gov/genetics/condition/hypermethioninemia/
https://www.babysfirsttest.org/newborn-screening/conditions/hypermethioninemia
Hyperphenylalaninemia (see PKU)
https://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency/
https://www.babysfirsttest.org/newborn-screening/conditions/benign-hyperphenylalaninemia
Maple Syrup Urine Disease
https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease/
https://www.babysfirsttest.org/newborn-screening/conditions/maple-syrup-urine-disease-msud
Phenylketonuria (PKU)
https://medlineplus.gov/genetics/condition/phenylketonuria/
https://www.babysfirsttest.org/newborn-screening/conditions/classic-phenylketonuria-pku
Tyrosinemia Type I
https://medlineplus.gov/genetics/condition/tyrosinemia/
https://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-i
Tyrosinemia Types II & III
https://medlineplus.gov/genetics/condition/tyrosinemia/
https://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
https://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-iii
Fatty Acid Oxidation Disorders
Medium Chain Acyl-CoA Dehydrogenase Deficiency
https://medlineplus.gov/genetics/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/
Long Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency
https://medlineplus.gov/genetics/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency/
Trifunctional Protein Deficiency
https://medlineplus.gov/genetics/condition/mitochondrial-trifunctional-protein-deficiency/
https://www.babysfirsttest.org/newborn-screening/conditions/trifunctional-protein-deficiency
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
https://medlineplus.gov/genetics/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency/
Carnitine Palmitoyltransferase Deficiency Type IA
https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency/
Carnitine Palmitoyltransferase Deficiency Type II
https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency/
Carnitine/Acylcarnitine Translocase Deficiency
https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency/
Glutaric Acidemia Type II
https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii/
https://www.babysfirsttest.org/newborn-screening/conditions/glutaric-acidemia-type-ii
2,4 Dienoyl-CoA Reductase Deficiency
https://newbornscreening.hrsa.gov/conditions/24-dienoyl-coa-reductase-deficiency
https://rarediseases.info.nih.gov/diseases/10327/24-dienoyl-coa-reductase-deficiency
https://www.babysfirsttest.org/newborn-screening/conditions/24-dienoyl-coa-reductase-deficiency
Carnitine Uptake Defect/Carnitine Transport Defect
https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency
https://www.babysfirsttest.org/newborn-screening/conditions/carnitine-uptake-defect
Medium/Short Chain L-3-Hydroxylacyl CoA Dehydrogenase Deficiency
https://medlineplus.gov/genetics/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency/
Medium Chain Ketoacyl-CoA Thiolase Deficiency
https://newbornscreening.hrsa.gov/conditions/medium-chain-ketoacyl-coa-thiolase-deficiency
Organic Acidemias
Propionic Acidemia
https://medlineplus.gov/genetics/condition/propionic-acidemia/
https://www.babysfirsttest.org/newborn-screening/conditions/propionic-acidemia
Methylmalonic Acidemia (methylmalonyl-CoA mutase)
https://medlineplus.gov/genetics/condition/methylmalonic-acidemia/
Methylmalonic Acidemia (Cobalamin disorders: Cobalamin A, B)
https://newbornscreening.hrsa.gov/conditions/methylmalonic-acidemia-cobalamin-disorders
Methylmalonic Acidemia (Cobalamin disorders: Cobalamin C Disease)
https://medlineplus.gov/genetics/condition/methylmalonic-acidemia-with-homocystinuria/
Isovaleric Acidemia
https://medlineplus.gov/genetics/condition/isovaleric-acidemia/
https://www.babysfirsttest.org/newborn-screening/conditions/isovaleric-acidemia
3-Methylcrotonyl-CoA Carboxylase Deficiency
https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency/
3-Hydroxy-3-Methyglutaric Aciduria
https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency/
https://www.babysfirsttest.org/newborn-screening/conditions/3-hydroxy-3-methylglutaric-aciduria
Holocarboxylase Synthase Deficiency
https://medlineplus.gov/genetics/condition/holocarboxylase-synthetase-deficiency/
https://www.babysfirsttest.org/newborn-screening/conditions/holocarboxylase-synthetase-deficiency
ß-Ketothiolase Deficiency
https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/
https://www.babysfirsttest.org/newborn-screening/conditions/beta-ketothiolase-deficiency
Glutaric Acidemia Type I
https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i/
https://www.babysfirsttest.org/newborn-screening/conditions/glutaric-acidemia-type-i
2-Methyl-3-hydroxybutyric aciduria
https://medlineplus.gov/genetics/condition/hsd10-disease/#synonyms
https://www.babysfirsttest.org/newborn-screening/conditions/2-methyl-3-hydroxybutyric-acidemia
3-Methylglutaconic aciduria
https://medlineplus.gov/genetics/condition/3-methylglutaconyl-coa-hydratase-deficiency/
https://www.babysfirsttest.org/newborn-screening/conditions/3-methylglutaconic-aciduria
Other Disorders (Group One)
Galactosemia
https://medlineplus.gov/genetics/condition/galactosemia/
https://www.babysfirsttest.org/newborn-screening/conditions/classic-galactosemia
Biotinidase Deficiency
https://medlineplus.gov/genetics/condition/biotinidase-deficiency/
https://www.babysfirsttest.org/newborn-screening/conditions/biotinidase-deficiency
Congenital Hypothyroidism
https://medlineplus.gov/genetics/condition/congenital-hypothyroidism/
https://www.babysfirsttest.org/newborn-screening/conditions/primary-congenital-hypothyroidism
Congenital Adrenal Hyperplasia
https://medlineplus.gov/ency/article/000411.htm
https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency/
https://www.babysfirsttest.org/newborn-screening/conditions/congenital-adrenal-hyperplasia
Hemoglobin Disorders
S,S Disease (Sickle Cell Anemia)
https://medlineplus.gov/genetics/condition/sickle-cell-disease/
https://www.babysfirsttest.org/newborn-screening/conditions/sickle-cell-anemia
S, βeta-Thalassemia
https://medlineplus.gov/genetics/condition/sickle-cell-disease/
https://www.babysfirsttest.org/newborn-screening/conditions/s-beta-thalassemia
S, C Disease
https://rarediseases.info.nih.gov/diseases/6584/hemoglobin-sc-disease
https://www.babysfirsttest.org/newborn-screening/conditions/s-c-disease
Beta Thalassemia
https://medlineplus.gov/genetics/condition/beta-thalassemia/
https://www.hopkinsmedicine.org/health/conditions-and-diseases/beta-thalassemia
E, βeta-Thalassemia
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237252/
Other Disorders (Group Two)
Cystic Fibrosis
https://medlineplus.gov/genetics/condition/cystic-fibrosis/
https://www.babysfirsttest.org/newborn-screening/conditions/cystic-fibrosis-cf
Expanded Variant Panel (6/22/23)
Severe Combined Immune Deficiency (SCID)
https://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency
https://www.babysfirsttest.org/newborn-screening/conditions/severe-combined-immunodeficiency-scid
Spinal Muscular Atrophy due to homozygous deletion of exon 7 in SMN1
https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy/
https://www.babysfirsttest.org/newborn-screening/conditions/spinal-muscular-atrophy
Glycogen Storage Disease Type II (Pompe)
https://medlineplus.gov/genetics/condition/pompe-disease/
https://www.babysfirsttest.org/newborn-screening/conditions/pompe
| Methods of Screening Tests | |||
| Condition(s) Screened | Method(s) | Biomarker(s) | Reference Value(s) |
| Aminoacidopathies |
1st Tier: MS/MS 2nd Tier: LC-MS/MS |
Amino acids | Amino Acids Reference Table |
| Fatty Acid Oxidation (FAO) Disorders |
1st Tier: MS/MS 2nd Tier: LC-MS/MS |
Acylcarnitine profile | Fatty Acids Reference Table |
| Organic Acidemias (OA) |
1st Tier: MS/MS 2nd Tier: LC-MS/MS |
1st Tier: Acylcarnitine profile 2nd Tier: Organic acids |
Organic Acids Reference Table |
| Galactosemia |
1st Tier: Enzyme assay 2nd Tier: Enzyme assay |
1st Tier: Galactose-1-phosphate uridyl-1-transferase (GALT) activity 2nd Tier: Total galactose |
1st Tier: >3.0 U/g Hb 2nd Tier: <6.0 mg/dL |
| Biotindase Deficiency | Enzyme assay | Biotinidase activity | Present |
| Congenital Hypothyroidism (CH) | Immunoassay | Thyroid Stimulating Hormone (TSH) |
0-96h: <50 uIU/mL 97-312h: <17 uIU/mL >313h: <15 uIU/mL |
| Congenital Adrenal Hyperplasia (CAH) |
1st Tier: Immunoassay 2nd Tier: LC-MS/MS |
1st Tier: 17-Hydroxyprogesterone (17-OHP) 2nd Tier: steroid profile |
Age- and birthweight-dependent |
| Hemoglobinopathies |
1st Tier: IEF 2nd Tier: HPLC |
Hemoglobin (Hgb) fractions | Presence of fetal and adult Hgb |
| Cystic Fibrosis (CF) |
1st Tier: Immunoassay 2nd Tier: Next Generation Sequencing |
1st Tier: Immunoreactive Trypsinogen (IRT) 2nd Tier: CFTR gene variants |
1st Tier: <170 ng/mL 2nd Tier: None detected |
| Severe Combined Immune Deficiency (SCID) | Real-Time PCR | T-cell Receptor Excision Circles (TREC) | <1.079 MoM |
| Spinal Muscular Atrophy (SMA) | Real-Time PCR | Functional SMN1 exon 7 | Present |
| Pompe Disease | Enzyme assay and MS/MS | Acid alpha glucosidase (GAA) activity | >15% of the daily median |