Newborn Screening

 All infants born in Michigan are screened for 50+ disorders and hearing loss. Shown below are the disorders included on the screening panel. (Fact sheets are available for some disorders.)


Timeline of NBS disorders imageAmino Acid Disorders:
1. Argininemia (ARG)*
2. Argininosuccinic acidemia (ASA) 
3. Citrullinemia Type I (CIT-I) 
4. Citrullinemia Type II (CIT-II)
5. Homocystinuria (HCY) 
6. Hypermethioninemia (MET)*
7. Maple syrup urine disease (MSUD) 
8. Phenylketonuria (PKU) 
     9. Benign hyperphenylalaninemia defect (H-PHE)
   10. Biopterin cofactor biosynthesis defect (BIOPT-BS)
   11. Biopterin cofactor regeneration defect (BIOPT-REG)
12. Tyrosinemia (TYR-I)*
13. Tyrosinemia Type II(TYR-II)*
14. Tyrosinemia Type III(TYR-III)*

Fatty Acid Oxidation Disorders: 

15. Carnitine acylcarnitine translocase deficiency (CACT)*

16. Carnitine palmitoyltransferase I deficiency (CPT-IA)*

17. Carnitine palmitoyltransferase II deficiency (CPT-II)*

18. Carnitine uptake deficiency (CUD)*

19. Dienoyl-CoA reductase deficiency (DERED)*

20. Glutaric acidemia type II (GA-2)*

21. Long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (LCHAD)*

22. Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (M/SCHAD)*

23. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

24. Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)*

25. Short-chain acyl-CoA dehydrogenase deficiency (SCAD)*

26. Trifunctional protein deficiency (TFP)*

27. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)*

 

Organic Acid Disorders:
28. 2-Methyl-3-hydroxy butyric aciduria (2M3HBA)*

29. 2-Methylbutyryrl-CoA dehydrogenase deficiency (2MBG)*
30. 3-hydroxy 3-methylglutaric aciduria (HMG)*

31. 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)*

32. 3-Methylglutaconic aciduria (3MGA)*
33. Beta-ketothiolase deficiency (BKT)*

34. Glutaric acidemia type I (GA1)*
35. Isobutyryl-CoA dehydrogenase deficiency (IBG)*

36. Isovaleric acidemia (IVA)*
37. Malonic acidemia (MAL)

38. Methylmalonic acidemia cobalamin disorders (Cbl A,B)*
39. Methylmalonic aciduria with homocystinuria (Cbl C,D)*
40. Methylmalonic acidemia methylmalonyl-CoA mutase (MUT)*
41. Multiple carboxylase deficiency (MCD)*

42. Propionic acidemia (PROP)*
 

Hemoglobinopathies:

Interpretation of Newborn Hemoglobin Screening results
43. S/Beta thalassemia

44. S/C disease

45. Sickle cell anemia

46. Variant hemoglobinopathies

47. Hemoglobin H disease

 

Endocrine Disorders:
48. Congenital adrenal hyperplasia (CAH)

49. Congenital hypothyroidism (CH)

Other Disorders:

50. Biotinidase deficiency (BIOT)
51. Galactosemia (GALT)

52. Cystic Fibrosis (CF)**

53. Severe combined immunodeficiency (SCID)

   54. T-cell related lymphocyte deficiencies
55. Early Hearing Detection and Intervention (EHDI) Program

56. Critical Congenital Heart Disease (CCHD)


Disorders Coming Soon: The following conditions have been approved for Michigan's panel but implementation is in progress and screening has not yet begun.

  • Glycogen Storage Disease Type II (Pompe)
  • Mucopolysaccharidosis Type I (MPS I)
  • X-linked Adrenoleukodystrophy (X-ALD)

**Over 1800 mutations have been identified in the gene associated with Cystic Fibrosis, the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. Most newborn screening programs only screen for the most common disease causing CFTR gene mutations.

Provided is a list of the CFTR mutations included in Michigan's Cystic Fibrosis Newborn Screening Panel


NBS Main Page