AN ACT

 

1Amending the act of September 9, 1965 (P.L.497, No.251),
2entitled, as amended, "An act requiring physicians, hospitals
3and other institutions to administer or cause to be
4administered tests for genetic diseases upon infants in
5certain cases," further providing for the Newborn Child
6Screening and Follow-up Program.

7The General Assembly of the Commonwealth of Pennsylvania
8hereby enacts as follows:

9Section 1. Section 3(a)(2) of the act of September 9, 1965
10(P.L.497, No.251), known as the Newborn Child Testing Act,
11amended July 4, 2008 (P.L.288, No.36), is amended to read:

12Section 3. Newborn Child Screening and Follow-up Program.--
13(a) In order to assist health care providers to determine
14whether treatment or other services are necessary to avert
15mental retardation, permanent disabilities or death, the
16department, with the approval of the Newborn Screening and
17Follow-up Technical Advisory Committee, shall establish a
18program providing for:

1* * *

2(2) Follow-up services relating to case management,
3referrals, confirmatory testing, assessment and diagnosis of
4newborn children with abnormal, inconclusive or unacceptable
5screening test results for the following diseases:

6(i) Phenylketonuria (PKU).

7(ii) Maple syrup urine disease (MSUD).

8(iii) Sickle-cell disease (hemoglobinopathies).

9(iv) Isovaleric acidemia/Isovalery-CoA dehydrogenase
10deficiency (IVA).

11(v) Glutaric acidemia Type I/Glutaryl-CoA dehydrogenase
12deficiency Type I (GA I).

13(vi) 3-Hydroxy 3-methylglutaryl-CoA lyase deficiency (HMG).

14(vii) Multiple carboxylase deficiency (MCD).

15(viii) Methylmalonic acidemia (mutase deficiency) (MUT).

16(ix) Methylmalonic acidemia (Cbl A,B).

17(x) 3-Methylcrontonyl-CoA carboxylase deficiency (3MCC).

18(xi) Propionic acidemia/Propionyl-CoA carboxylase deficiency
19(PROP).

20(xii) Beta-ketothiolase deficiency (BKT).

21(xiii) Medium chain acyl-CoA dehydrogenase deficiency
22(MCAD).

23(xiv) Very long-chain acyl-CoA dehydrogenase deficiency
24(VLCAD).

25(xv) Long-chain L-3-OH acyl-CoA dehydrogenase deficiency
26(LCHAD).

27(xvi) Trifunctional protein deficiency (TFP).

28(xvii) Carnitine uptake defect (CUD).

29(xviii) Homocystinuria (HCY).

30(xix) Tyrosinemia type I (TYR I).

1(xx) Argininosuccinic acidemia (ASA).

2(xxi) Citrullinemia (CIT).

3(xxii) Hb S/Beta-thalassemia (Hb S/Th).

4(xxiii) Hb S/C disease (Hb S/C).

5(xxiv) Congenital hypothyroidism (HYPOTH).

6(xxv) Biotinidase deficiency (BIOT).

7(xxvi) Congenital adrenal hyperplasia (CAH).

8(xxvii) Galactosemia (GALT).

9(xxviii) Cystic fibrosis (CF).

10(xxix) Nonketotic hyperglycinemia (NKH).

11* * *

12Section 2. This act shall take effect in 60 days.