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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 currently included on the screening panel. (Fact sheets are available for some disorders.)

    Amino 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. 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

    46. 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

    Point of Care Tests:

  58. Early Hearing Detection and Intervention (EHDI) Program
  59. Critical Congenital Heart Disease (CCHD)
September 2022

Guanidinoacetate methyltransferase (GAMT) deficiency

March 2020

Spinal muscular atrophy (SMA)

October 2019

X-linked adrenoleukodystrophy (X-ALD)

August 2017

Glycogen storage disease type II (Pompe) and Mucopolysaccharidosis type I (MPS I)

April 2014

Critical congenital heart disease (CCHD)

October 2011

Severe combined immunodeficiency (SCID)

October 2007

Cystic fibrosis (CF) and Early hearing detection and intervention program (EHDI)

April 2005

31 MS/MS Disorders*

October 2004

Homocystinuria (HCY), Citrullinemia (CIT), Argininosuccinic acidemia (ASA)

April 2003

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

July 1993

Congenital adrenal hyperplasia (CAH)

October 1987

Biotinidase deficiency (BIOT), Maple syrup urine disease (MSUD) and Hemoglobinopathies

Spring 1985

Galactosemia (GALT)

June 1977

Congenital Hypothyroidism (CH)

August 1965

Phenylketonuria (PKU)

*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.

 

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