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The Florida Department of Health works to protect, promote & improve the health of all people in Florida through integrated state, county, & community efforts.

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Disorders

Contact the Newborn Screening Program

Per Florida Statute 383.14 (5) the Genetics and Newborn Screening Advisory Council recommends the conditions for which testing should be included under the screening program.  Florida Newborn Screening Program screens for all 31 core conditions and 22 secondary conditions (a total of 53 conditions), 50 of which are included in the Recommended Uniform Screening Panel (RUSP) that is recommended by the US Department of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children.

The ACMG developed an ACTion (ACT) sheet that describes the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive, and 2) an algorithm that presents an overview of the basic steps involved in determining the final diagnosis in the infant. These sheets can be found on the ACMG website-Newborn Screening ACT Sheets and Confirmatory Algorithms.

The Department of Health currently screens all babies born in Florida for the following disorders.

Core Disorders

  1. Propionic acidemia
  2. Methylmalonic acidemia (methlymlonyl-CoA mutase)
  3. Methylmalonic acidemia (cobalamin disorders)
  4. Isovaleric acidemia
  5. 3-Methylcrotonyl-CoA carboxylase deficiency
  6. 3-Hydroxy-3-methyglutaric aciduria
  7. Holocarboxylase synthase deficiency
  8. ß-Ketothiolase deficiency
  9. Glutaric acidemia type I
  10. Carnitine uptake defect/carnitine transport defect
  11. Medium-chain acyl-CoA dehydrogenase deficiency
  12. Very long-chain acyl-CoA dehydrogenase deficiency
  13. Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
  14. Trifunctional protein deficiency
  15. Argininosuccinic aciduria
  16. Citrullinemia, type I
  17. Maple syrup urine disease
  18. Homocystinuria
  19. Classic phenylketonuria
  20. Tyrosinemia, type I
  21. Primary congenital hypothyroidism
  22. Congenital adrenal hyperplasia
  23. S, S disease (Sickle cell anemia)
  24. S, ßeta-thalassemia  (Sickle Beta Thalassemia)
  25. S, C disease (Sickle cell disease)
  26. Biotinidase deficiency
  27. Critical congenital heart disease
  28. Cystic Fibrosis
  29. Classic galactosemia
  30. Hearing loss
  31. Severe combined immunodeficiency

Secondary Disorders

  1. (32) Methylmalonic acidemia with homocystinuria
  2. (33) Isobutyrylglycinuria
  3. (34) 2-Methylbutyrylglycinuria
  4. (35) 3-Methylglutaconic aciduria
  5. (36) 2-Methyl-3-hydroxybutyric
  6. (37) Ethylmalonic encephalopathy (not on RUSP)
  7. (38) Short-chain acyl-CoA dehydrogenase
  8. (39) Glutaric acidemia, type II
  9. (40) Carnitine palmitoyltransferase type I deficiency
  10. (41) Carnitine palmitoyltransferase type II deficiency
  11. (42) Carnitine acylcarnitine translocase deficiency
  12. (43) Citrullinemia, type II
  13. (44) Hypermethioninemia
  14. (45) Benign hyperphenylalanemia
  15. (46) Biopterin defect in cofactor biosynthesis
  16. (47) Biopterin defect in cofactor regeneration
  17. (48) Ornitine transcabamylase deficiency (not on RUSP)
  18. (49) Carbamoyl phosphate synthase deficiency (not on RUSP)
  19. (50) Tyrosinemia, type II
  20. (51) Tyrosinemia, type III
  21. (52) Various other hemoglobinopathies
  22. (53) T-cell related lymphocyte deficiencies

Download a copy of the disorder list.

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