W. Va. Code R. § 64-91-5 - Complete list of diseases and conditions

5.1. Every infant born in West Virginia must be screened for the diseases and conditions contained in this section.

5.2. Adrenoleukodystrophy

5.3. Argininosuccinic acidemia, ASA;

5.4. Beta-ketothiolase deficiency, BKT;

5.5. Biotinidase deficiency, BIOT;

5.6. Carnitine uptake defect, CUD;

5.7. Citrullinemia, CIT;

5.8. Congenital adrenal hyperplasia, CAH;

5.9. Cystic fibrosis, CF;

5.10 Galactosemia, GALT;

5.11. Glutaric acidemia type I, GAI;

5.12. Hearing deficiency, HEAR;

5.13. Hemoglobinopathies; including:

5.13.a. Hemoglobin S/Beta-thalassemia, Hb S/Th;

5.13.b. Sickle cell anemia, Hb SS;

5.13.c. Sickle C disease, Hb S/C;

5.14. Homocystinuria, HCY;

5.15. 3-Hydroxy-3-methylglutaric aciduria, HMG;

5.16. Hypothyroidism, CH;

5.17. Isovaleric acidemia, IVA;

5.18. Long-chain hydroxyacyl-CoA dehydrogenase deficiency, LCHAD;

5.19. Maple syrup urine disease, MSUD;

5.20. Medium-chain acyl-CoA dehydrogenase deficiency, MCAD;

5.21. 3-Methylcrotonyl-CoA carboxylase deficiency, 3MCC;

5.22. Methylmalonic acidemia - Cbl A and Cbl B forms, Cbl A,B;

5.23. Methylmalonic acidemia-mutase deficiency form, MUT;

5.24. Multiple carboxylase deficiency, MCD;

5.25. Phenylketonuria, PKU;

5.26. Propionic acidemia, PROP;

5.27. Trifunctional protein deficiency, TFP;

5.28. Tyrosinemia type I, TYRI;

5.29. Very long-chain acyl-CoA dehydrogenase deficiency, VLCAD;

5.30. Lysosomal Storage Disorders;

5.31. X-Linked Adrenoleukodystrophy, X-ALD; and

5.32. Spinal Muscular Atrophy, SMA.

Notes

W. Va. Code R. § 64-91-5