TABLE 4

Status of Newborn Screening in the United States: Core Conditions Detected by MS/MS

StateCore Conditions: Metabolica
Fatty Acid DisordersOrganic Acid DisordersAmino Acid Disorders
CUDLCHADMCADTFPVLCADGA-IHMGIVA3-MCCCbl-A,BBKTMUTPROPMCDASACITHCYMSUDPKUTYR- I
Alabama
Alaska
Arizona
Arkansas
California
ColoradoCCCCCCCCCCCCCCCCCCC
Connecticut
District of Columbia
Delaware
Florida
Georgia
Hawaii
Idaho
Illinois
Indiana
Iowa
Kansas
Kentucky
LouisianaAAAAA
MaineDDD
Maryland
MassachusettsDADAAAAAAAAADAAA
MichiganAAAAAAAAAAAAAA
Minnesota
Mississippi
Missouri
MontanaBBBBBBBBBBBBBBBBBBB
NebraskaAAAAAAAAAAAAAAAAA
Nevada
New HampshireC
New JerseyAAAAA
New MexicoCCCCCCCCCCCCCCCCCCC
New York
North Carolina
North Dakota
Ohio
OklahomaC
OregonAAAAA
PennsylvaniaBBBBBBBBBBBBBBBBBB
Rhode IslandD
South Carolina
South Dakota
Tennessee
Texas
Utah
VermontDDD
Virginia
Washington
West Virginia
Wisconsin
Wyoming
  • A dot (•) indicates that screening for the condition is universally required by law or rule; A, universally offered but not yet required; B, offered to select populations or by request; C, testing is required but not yet implemented; D, likely to be detected (and reported) as a byproduct of multiple reaction monitoring screening (MS/MS) targeted by law or rule. 3-MCC indicates 3-methylcrotonyl-coenzyme A carboxylase; ASA, argininosuccinate acidemia; BKT, β ketothiolase (mitochondrial acetoacetyl-coenzyme A thiolase; short-chain ketoacyl thiolase; T2); CBL A,B, methylmalonic acidemia (vitamin B12 disorders); CIT I, citrullinemia type I (Argininosuccinate synthetase); CUD, carnitine uptake defect (carnitine transport defect); GA-1, glutaric acidemia type 1; HCY, homocystinuria (cystathionine β synthase); HMG, 3-hydroxy 3-methylglutaric aciduria (3-hydroxy 3-methylglutaryl-coenzyme A lyase); IVA, isovaleric acidemia (isovaleryl-coenzyme A dehydrogenase); LCHAD, long-chain L-3- hydroxyacyl-coenzyme A dehydrogenase; MCD, multiple carboxylase (holocarboxylase synthetase); MSUD, maple syrup urine disease (branched-chain ketoacid dehydrogenase); MUT, methylmalonic acidemia (methylmalonyl-coenzyme A mutase); PROP, propionic acidemia (propionyl-coenzyme A carboxylase); TFP, trifunctional protein deficiency; TYR-1, tyrosinemia type 1; VLCAD, very long-chain acyl-coenzyme A dehydrogenase.

  • a Terminology is consistent with report from the American College of Medical Genetics. Newborn Screening: Toward a Uniform Screening Panel and System. Rockville, MD: Health Resources and Services Administration; 2005:63.

  • Nomenclature source: National Newborn Screening and Genetic Resource Center (http://genes-r-us.uthscsa.edu).