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

https://www.babysfirsttest.org/newborn-screening/conditions/biopterin-defect-in-cofactor-biosynthesis

 

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/

https://www.babysfirsttest.org/newborn-screening/conditions/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/

https://www.babysfirsttest.org/newborn-screening/conditions/long-chain-l-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/

https://www.babysfirsttest.org/newborn-screening/conditions/very-long-chain-acyl-coa-dehydrogenase-deficiency

 

Carnitine Palmitoyltransferase Deficiency Type IA

https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency/

https://www.babysfirsttest.org/newborn-screening/conditions/carnitine-palmitoyltransferase-i-deficiency

 

Carnitine Palmitoyltransferase Deficiency Type II

https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency/

https://www.babysfirsttest.org/newborn-screening/conditions/carnitine-palmitoyltransferase-type-ii-deficiency

 

Carnitine/Acylcarnitine Translocase Deficiency

https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency/

https://www.babysfirsttest.org/newborn-screening/conditions/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/

https://www.babysfirsttest.org/newborn-screening/conditions/mediumshort-chain-l-3-hydroxyacyl-coa-dehydrogenase-deficiency

 

Medium Chain Ketoacyl-CoA Thiolase Deficiency

https://newbornscreening.hrsa.gov/conditions/medium-chain-ketoacyl-coa-thiolase-deficiency

https://www.babysfirsttest.org/newborn-screening/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/

https://www.babysfirsttest.org/newborn-screening/conditions/methylmalonic-acidemia-methymalonyl-coa-mutase-deficiency

 

Methylmalonic Acidemia (Cobalamin disorders: Cobalamin A, B)

https://newbornscreening.hrsa.gov/conditions/methylmalonic-acidemia-cobalamin-disorders

https://www.babysfirsttest.org/newborn-screening/conditions/methylmalonic-acidemia-cobalamin-disorders

 

Methylmalonic Acidemia (Cobalamin disorders: Cobalamin C Disease)

https://medlineplus.gov/genetics/condition/methylmalonic-acidemia-with-homocystinuria/

https://www.babysfirsttest.org/newborn-screening/conditions/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/

https://www.babysfirsttest.org/newborn-screening/conditions/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://www.babysfirsttest.org/newborn-screening/conditions/primary-congenital-hypothyroidism

https://medlineplus.gov/genetics/condition/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

 

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