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Newborn Screening - List of Disorders

Newborn Screening - List of Disorders

All infants born in Michigan are screened for 50+ disorders and hearing. Shown below are the disorders included on the screening panel. (Fact sheets are available for some 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. Trifunctional protein deficiency (TFP)*
26. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)*

Organic Acid Disorders:
27. 2-Methyl-3-hydroxy butyric aciduria (2M3HBA)*
28. 2-Methylbutyryrl-CoA dehydrogenase deficiency (2MBG)*
29. 3-hydroxy 3-methylglutaric aciduria (HMG)*
30. 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)*
31. 3-Methylglutaconic aciduria (3MGA)*
32. Beta-ketothiolase deficiency (BKT)*
33. Glutaric acidemia type I (GA1)*
34. Isovaleric acidemia (IVA)*
35. Malonic acidemia (MAL)
36. Methylmalonic acidemia cobalamin disorders (Cbl A,B)*
37. Methylmalonic aciduria with homocystinuria (Cbl C,D)*
38. Methylmalonic acidemia methylmalonyl-CoA mutase (MUT)*
39. Multiple carboxylase deficiency (MCD)*
40. Propionic acidemia (PROP)*

Hemoglobinopathies:
Interpretation of Newborn Hemoglobin Screening results
41. S/Beta thalassemia
42. S/C disease
43. Sickle cell anemia
44. Variant hemoglobinopathies
45. Hemoglobin H disease

Endocrine Disorders:
46. Congenital adrenal hyperplasia (CAH)
47. Congenital hypothyroidism (CH)

Lysosomal Storage Disorders:
48. Glycogen Storage Disease Type II (Pompe)
49. Mucopolysaccharidosis Type I (MPS I)

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. X-linked Adrenoleukodystrophy (X-ALD)
56. Spinal muscular atrophy (SMA)

57. Guanidinoacetate methyltransferase (GAMT) deficiency

58. Early Hearing Detection and Intervention (EHDI) Program

59. Critical Congenital Heart Disease (CCHD)

 Michigan Newborn Screening Timeline

 

*Disorders labeled with one asterisk were added to the NBS panel in 2005 using the tandem mass spectrometry (MS/MS) platform.

**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 CFTR mutations currently included in Michigan's Cystic Fibrosis Newborn Screening Panel

The Newborn Screening Program is working to expand the 2nd-tier CFTR mutation panel to include 139 total mutations. This expansion is anticipated to go live on February 3rd, 2025. Provided is a list of CFTR mutations that will be included on this revised panel. 

 

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