N.J. Admin. Code § 8:18-1.3

Current through Register Vol. 56, No. 23, December 2, 2024

Section 8:18-1.3 - Diseases and conditions tested

(a) The testing required by 26:2-111 and this subchapter shall be done by the testing laboratory according to recognized clinical laboratory procedures.

(b) Diseases and conditions to be tested shall include, but not be limited to:

1. Phenylketonuria;

2. Galactosemia;

3. Hypothyroidism;

4. Sickle cell anemia; and

5. Other hemoglobinopathies; as designated by the Commissioner.

(c) Beginning July 2001, in addition to the disorders under (b) above, the following conditions were added to newborn screening:

1. Maple syrup urine disease;

2. Congenital adrenal hyperplasia;

3. Cystic fibrosis; and

4. Biotinidase deficiency.

(d) Beginning July 2002, in addition to the disorders under (b) and (c) above, the following conditions were added to newborn screening:

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

2. Short chain acyl-CoA dehydrogenase (SCAD) deficiency;

3. Long chain acyl-CoA dehydrogenase (LCAD) deficiency;

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

5. Citrullinemia; and

6. Argininosuccinic acidemia.

(e) Beginning October 2003, in addition to the disorders under (b) through (d) above, the following conditions were added to newborn screening:

1. Methylmalonic acidemia;

2. Propionic acidemia;

3. Glutaric acidemia type I;

4. Isovaleric acidemia;

5. 3-Hydroxy-3-methylglutaryl CoA lyase deficiency; and

6. 3-Methylcrotonyl-CoA carboxylase deficiency.

(f) Beginning May 2009, in addition to the disorders under (b) through (e) above, the following conditions were added to newborn screening:

1. Hemoglobin S/Beta-thalassemia;

2. Hemoglobin S/C disease;

3. 2,4-Dienoyl-CoA reductase deficiency;

4. Carnitine palmitoyltransferase I deficiency;

5. Carnitine palmitoyltransferase II deficiency;

6. Carnitine/acylcarnitine translocase deficiency;

7. Carnitine uptake defect;

8. Glutaric acidemia type II;

9. Long chain 3-Hydroxyacyl-CoA dehydrogenase deficiency;

10. Medium/Short chain 3-Hydroxy acyl-CoA dehydrogenase deficiency;

11. Medium chain ketoacyl-CoA thiolase deficiency;

12. Trifunctional protein deficiency;

13. 2-Methyl-3-hydroxybutyric acidemia;

14. 2-Methylbutyrylglycinemia;

15. 3-Methylglutaconic acidemia;

16. Beta-Ketothiolase deficiency;

17. Isobutyrylglycinemia;

18. Malonic acidemia;

19. Methylmalonic acidemia-Cobalamin A, B;

20. Methylmalonic acidemia-Cobalamin C, D;

21. Multiple carboxylase deficiency;

22. Argininemia;

23. Hyperphenylalanemia (benign);

24. Biopterin cofactor defect of biosynthesis;

25. Biopterin cofactor defect of regeneration;

26. Citrullinemia type II;

27. Homocystinemia;

28. Hypermethioninemia;

29. Tyrosinemia type I;

30. Tyrosinemia type II;

31. Tyrosinemia type III;

32. Galactoepimerase deficiency; and

33. Galactokinase deficiency.

N.J. Admin. Code § 8:18-1.3

Amended by R.2004 d.333, effective 9/7/2004.
See: 35 N.J.R. 4193(a), 36 N.J.R. 4135(a).
Added (c) and (d).
Recodified from N.J.A.C. 8:19-2.3 and amended by R.2005 d.346, effective 10/17/2005.
See: 37 N.J.R. 1661(a), 37 N.J.R. 4018(a).
Added (e).
Amended by R.2011 d.105, effective 4/4/2011.
See: 42 N.J.R. 2526(a), 43 N.J.R. 835(a).
Added (f).