Disease Descriptions

Screening is available for all of the following diseases and conditions through some existing routine newborn screening programs.  At the present time, the same filter paper blood spot specimen can test for more than 50 diseases (using several different screening methodologies/equipment).

Download a PDF file of this list of the disorders we advocate.

View Core Panel and Secondary Targets showing other names by which these disorders are known.

Search specific aliases for a disorder you seek by visiting GeneReviews, National Library of Medicine, or OMIM (Online Mendelian Inheritance in Man).

Core Panel as recommended by the American College of Medical Genetics (ACMG)

1. 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
2. 3-OH 3-CH3 glutaric aciduria (HMG)
3. Argininosuccinic acidemia (ASA)
4. Beta-Ketothiolase deficiency (BKT)
5. Biotinidase deficiency (BIOT)
6. Carnitine uptake defect (CUD)
7. Citrullinemia (CIT)
8. Classical galactosemia (GALT)
9. Congenital adrenal hyperplasia (21-hydroxylase deficiency) (CAH)
10. Congenital hypothyroidism (CH)
11. Cystic fibrosis (CF)
12. Glutaric acidemia type I (GA 1)
13. HB S/C disease (Hb S/C)
14. Hb S/B-thalassemia (Hb S/BTh)
15. Homocystinuria (due to CBS deficiency) (HCY)
16. Isovaleric acidemia (IVA)
17. Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHADD)
18. Maple syrup urine disease (MSUD)
19. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
20. Methylmalonic acidemia (Cbl A, B)
21. Methylmalonic acidemia (mutase deficiency) (MUT)
22. Multiple carboxylase deficiency (MCD)
23. Phenylketonuria (PKU)
24. Propionic acidemia (PROP)
25. Sickle cell anemia (Hb SS disease) Hb (SS)
26. Trifunctional protein deficiency (TFP)
27. Tyrosinemia type I (TYR I)
28. Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)

Secondary Targets as recommended by the American College of Medical Genetics (ACMG)

1. 2-Methyl 3-hydroxy butyric aciduria (2M3HBA)
2. 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG)
3. 3-Methylglutaconic aciduria (3MGA)
4. Argininemia (ARG)
5. Biopterin cofactor biosynthesis, defects of (BIOPT BS)
6. Biopterin cofactor regeneration, defects of (BIOPT REG)
7. Carnitine: acylcarnitine translocase deficiency (CACT)
8. Carnitine palmitoyltransferase I deficiency (liver) (CPT IA)
9. Carnitine palmitoyltransferase II deficiency (CPT II)
10. Citrullinemia type II (CIT II)
11. Dienoyl-CoA reductase deficiency (DE RED)
12. Galactokinase deficiency (GALK)
13. Galactose epimerase deficiency (GALE)
14. Glutaric acidemia Type II (GA 2)
15. Hypermethioninemia (MET)
16. Hyperphenylalaninemia, benign (H-PHE)
17. Isobutyryl-CoA dehydrogenase deficiency (IBG)
18. Malonic acidemia (MAL)
19. Medium/short-chain L-3-OH acyl-CoA dehydrogenase deficiency (M/SCHADD)
20. Medium-chain ketoacyl-CoA thiolase deficiency(MCKAT)
21. Methylmalonic acidemia (Cbl C,D)
22. Short-chain acyl-CoA dehydrogenase deficiency (SCADD)
23. Tyrosinemia type II (TYR II)
24. Tyrosinemia type III (TYR III)
25. Variant Hb-pathies (including HB E) (Var Hb)

Additional Disorders

Other Abnormal Profiles

• Hyperalimentation (TPN)
• Liver Disease
• Medium Chain Triglyceride (MCT) Oil Administration
• Presence of EDTA Anticoagulants in Blood Specimen
• Treatment with Benzoate, Pyvalic Acid, or Valproic Acid

Note: The Save Babies Through Screening Foundation encourages newborn screening programs to screen for Krabbe Disease and other Leukodystrophies.

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