Newborn Blood Screening Panel of Diseases


Amino Acid Disorders


Argininosuccinic acidemia


Citrullinemia type I and Type II






Hyperphenylalaninemia (see PKU)


Maple Syrup Urine Disease


Phenylketonuria (PKU)


Tyrosinemia Type I


Tyrosinemia Types II & III



Fatty Acid Oxidation Disorders


Medium Chain Acyl-CoA Dehydrogenase Deficiency


Long Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency


Trifunctional Protein Deficiency


Very Long Chain Acyl-CoA Dehydrogenase Deficiency


Carnitine Palmitoyltransferase Deficiency Type IA


Carnitine Palmitoyltransferase Deficiency Type II


Carnitine/Acylcarnitine Translocase Deficiency


Glutaric Acidemia Type II


2,4 Dienoyl-CoA Reductase Deficiency


Carnitine Uptake Defect/Carnitine Transport Defect


Medium/Short Chain L-3-Hydroxylacyl CoA Dehydrogenase Deficiency


Medium Chain Ketoacyl-CoA Thiolase Deficiency


Organic Acidemias


Propionic Acidemia


Methylmalonic Acidemia (methylmalonyl-CoA mutase)


Methylmalonic Acidemia (Cobalamin disorders: Cobalamin A, B)


Methylmalonic Acidemia (Cobalamin disorders: Cobalamin C Disease)


Isovaleric Acidemia


3-Methylcrotonyl-CoA Carboxylase Deficiency


3-Hydroxy-3-Methyglutaric Aciduria


Holocarboxylase Synthase Deficiency


ß-Ketothiolase Deficiency


Glutaric Acidemia Type I


2-Methyl-3-hydroxybutyric aciduria


3-Methylglutaconic aciduria


Other Disorders (Group One)




Biotinidase Deficiency


Congenital Hypothyroidism


Congenital Adrenal Hyperplasia


Hemoglobin Disorders


S,S Disease (Sickle Cell Anemia)


S, βeta-Thalassemia


S, C Disease


Beta Thalassemia


E, βeta-Thalassemia


Other Disorders (Group Two)


Cystic Fibrosis


Severe Combined Immune Deficiency (SCID)


Spinal Muscular Atrophy due to homozygous deletion of exon 7 in SMN1


Glycogen Storage Disease Type II (Pompe)


Methods of Screening Tests
Condition(s) Screened Method(s) Biomarker(s) Reference Value(s)

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

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

Steroids Reference Table


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