Nevada Newborn Screening Panel

Nevada newborns are screened for the following 31 core and 29 secondary conditions recommended by the College of Medical Genetics and the March of Dimes. The purpose of newborn screening is to identify infants at risk that require more definitive testing. As with any laboratory test, both false negatives and false positive results are possible. Screening test results are insufficient information on which to base diagnosis or treatment.

* The screening test will not detect 100 percent of affected infants.
± Represent emergent conditions, infants are at risk of illness or death in the first week of life or two.

  • Cystic Fibrosis*

Endocrine Conditions:

  • Congenital Adrenal Hyperplasia (CAH)*±
  • Congenital Hypothyroidism*

Hemoglobin Conditions:

  • Sickle Cell Disease and other Hemoglobinopathies*

Metabolic Conditions:

  • Biotinidase Deficiency
  • Galactosemia±

Amino Acid Conditions:

  • Homocystinuria*
  • Hyperphenylalaninemia including Phenylketonuria (PKU)
  • Tyrosinemia*

Fatty Acid Oxidation Conditions:

  • Carnitine Uptake Defect
  • Carnitine Palmitoyl Transferase I Deficiency (CPT I)*
  • Carnitine Palmitoyl Transferase II Deficiency (CPT II)
  • Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
  • Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)±
  • Long Chain 3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)*±
  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)*±

Organic Acid Conditions:

  • Beta-Ketothiolase Deficiency (BKD)±
  • Glutaric Acidemia, Type I (GA I)*
  • Isobutyryl CoA Dehydrogenase Deficiency (IBD)±
  • Isovaleric Acidemia (IVA)*±
  • Malonic Aciduria
  • Maple Syrup Urine Disease (MSUD)±
  • Methylmalonic Acidemias (MMA/8 types)±
  • Propionic Acidemia (PA)*±
  • 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency (HMG)*
  • 2-Methyl-3-Hydroxybutyryl CoA Dehydrogenase Deficiency (MBHD)*
  • 2-Methylbutyryl CoA Dehydrogenase Deficiency (2MBC)*
  • 3-Methylcrotonyl CoA Carboxylase Deficiency (3MCC)
  • 3-Methylglutaconyl CoA Hydratase Deficiency (3MGH)
  • Multiple Carboxylase Deficiency

Urea Cycle Conditions:

  • Arginase Deficiency
  • Argininosuccinate Lyase Deficiency (ASA)±
  • Citrullinemia±

Other Conditions:

  • Newborn Hearing Loss
  • Critical Congenital Heart Disease-started 7/1/2015
  • Severe Combined Immunodeficiency (SCID)-to start Jan/2018