Section He-P 3008.07 - DBS Analysis The laboratory conducting analysis of the DBS shall provide such analysis which includes, but is not limited to the following disorders:
(a) Phenylketonuria (PKU);(b) Maple syrup urine disease (MSUD);(c) Homocystinuria (HCY);(e) Congenital hypothyroidism;(h) Biotinidase deficiency (BIOT);(i) Congenital adrenal hyperplasia (CAH);(j) Medium chain acyl CoA dehydrogenase deficiency (MCAD);(k) Cystic fibrosis (CF);(l) Argininosuccinic aciduria (ASA);(n) Carnitine uptake defect (CUD);(o) Carnitine palmitoyltransferase II deficiency (CPTII);(p) Citrullinemia I, (ASA synthetase def) (CIT);(q) Cobalamin A,B (Cbl A,B);(r) Glutaric aciduria type I (GAI);(s) 3-hydroxy-3-methylglutaryl-CoA Lysase deficiency (HMG);(t) Hyperornithinemia hyperammoninemia, homocitrullinemia syndrome (HHH);(u) Isovaleric acidemia (IVA);(v) Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD);(w) 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC);(x) Methylmalonic acidemia (MUT);(y) Mitochondrial acetoacetyl-CoA thiolase deficiency (BKT);(z) Multiple acyl-CoA dehydrogenase deficiency (GA2);(aa) Multiple carboxylase deficiency (MCD);(ab) Propionic acidemia (PROP);(ac) Severe combined immunodeficiency disorder (SCID);(ad) Trifunctional protein deficiency (TFP);(af) Very long chain acyl-CoA dehydrogenase deficiency (VLCAD);(ag) Spinal muscular atrophy (SMA);(ah) Mucopolysaccharidosis Type 1 (MPS1);(ai) X-Linked Adrenoleukodystrophy (X-ALD); and(aj) Pompe Disease (POMPE).N.H. Admin. Code § He-P 3008.07
#8529, eff 12-23-05; ss by #8875, eff 4-25-07; ss by #9725, eff 7-1-10
Amended by Volume XXXVIII Number 41, Filed October 11, 2018, Proposed by #12632, Effective 9/28/2018, Expires 9/28/2028.Amended by Number 6, Filed February 9, 2023, Proposed by #13530, Effective 1/25/2023, Expires 1/25/2033.