New Hampshire Code of Administrative Rules
He - Department of Health and Human Services
Subtitle He-P - Former Division of Public Health Services
Chapter He-P 3000 - MATERNAL AND CHILD HEALTH
Part He-P 3008 - NEWBORN DRIED BLOOD SPOT SCREENING, CRITICAL CONGENITAL HEART DISEASE SCREENING AND NEWBORN HEARING SCREENING
Section He-P 3008.07 - DBS Analysis

Universal Citation: NH Admin Rules He-P 3008.07

Current through Register No. 40, October 3, 2024

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);

(d) Galactosemia (GALT);

(e) Congenital hypothyroidism;

(f) Toxoplasmosis;

(g) Hemoglobinopathies;

(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);

(m) Argininemia (ARG);

(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);

(ae) Tyrosinemia;

(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).

#8529, eff 12-23-05; ss by #8875, eff 4-25-07; ss by #9725, eff 7-1-10

Disclaimer: These regulations may not be the most recent version. New Hampshire may have more current or accurate information. We make no warranties or guarantees about the accuracy, completeness, or adequacy of the information contained on this site or the information linked to on the state site. Please check official sources.
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.