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Amend regulations to add Pompe disease and mucopolysaccharidosis ...
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12VAC5-71-30

12VAC5-71-30. Core panel of heritable disorders and genetic diseases.

A. The Virginia Newborn Screening System, which includes the Virginia Newborn Screening Program, the Virginia Early Hearing Detection and Intervention Program, and the Virginia critical congenital heart disease screening, shall ensure that the core panel of heritable disorders and genetic diseases for which newborn screening is conducted is consistent with but not necessarily identical to the U.S. Department of Health and Human Services Secretary's Recommended Uniform Screening Panel.

B. The department shall review, at least biennially, national recommendations and guidelines and may propose changes to the core panel of heritable disorders and genetic diseases for which newborn dried-blood-spot screening tests are conducted.

C. The Virginia Genetics Advisory Committee may be consulted and provide advice to the commissioner on proposed changes to the core panel of heritable disorders and genetic diseases for which newborn dried-blood-spot screening tests are conducted.

D. Infants under six months of age who are born in Virginia shall be screened in accordance with the provisions set forth in this chapter for the following heritable disorders and genetic diseases, which are identified through newborn dried-blood-spot screening tests:

1. Argininosuccinic aciduria (ASA);

2. Beta-Ketothiolase deficiency (BKT);

3. Biotinidase deficiency (BIOT);

4. Carnitine uptake defect (CUD);

5. Classical galactosemia (galactose-1-phosphate uridyltransferase deficiency) (GALT);

6. Citrullinemia type I (CIT-I);

7. Congenital adrenal hyperplasia (CAH);

8. Cystic fibrosis (CF);

9. Glutaric acidemia type I (GA I);

10. Hb S beta-thalassemia (Hb F,S,A);

11. Hb SC-disease (Hb F,S,C);

12. Hb SS-disease (sickle cell anemia) (Hb F, S);

13. Homocystinuria (HCY);

14. Isovaleric acidemia (IVA);

15. Long chain L-3-Hydroxy acyl-CoA dehydrogenase deficiency (LCHAD);

16. Maple syrup urine disease (MSUD);

17. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD);

18. Methylmalonic acidemia (Methylmalonyl-CoA mutase deficiency) (MUT);

19. Methylmalonic acidemia (Adenosylcobalamin synthesis deficiency) (CBL A, CBL B);

20. Multiple carboxylase deficiency (MCD);

21. Phenylketonuria (PKU);

22. Primary congenital hypothyroidism (CH);

23. Propionic acidemia (PROP);

24. Severe combined immunodeficiency (SCID);

25. Tyrosinemia type I (TYR I);

26. Trifunctional protein deficiency (TFP);

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

28. 3-hydroxy 3-methyl glutaric aciduria (HMG); and

29. 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC);

30. Pompe disease; and

31. Mucopolysaccharidosis type I (MPS I).

E. Infants born in Virginia shall be screened for hearing loss in accordance with provisions set forth in §§ 32.1-64.1 and 32.1-64.2 of the Code of Virginia and as governed by 12VAC5-80.

F. Newborns born in Virginia shall be screened for critical congenital heart disease in accordance with provisions set forth in §§ 32.1-65.1 and 32.1-67 of the Code of Virginia and as governed by 12VAC5-71-210 through 12VAC5-71-260.