National Newborn MS/MS Screening Status

U.S. National Screening Status Report - MS/MS

The U.S. National Screening Status Report lists the status of newborn screening in the United States. This page lists additional disorders screened for using tandem mass spectrometry (MS/MS). The test has to be a requirement of the state in order for a dot ( ) to be added.
a = (not mandated) select populations, limited pilot programs, or by request, -b = (not mandated) universal pilot, c = testing mandated but not implemented.

Note: Screening for PKU, MSUD, and, Homocystinuria, are noted on the original status report. Back to Status Report

Updated 04/10/03
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Disorder                             CA CT DE GA HI IA ID IL IN MD ME MA MN MS MT NC* ND NE NJ NY OH OR PA RI SC SD VA WI

Fatty Acid Oxidation
Defects

Carnitine Palmitoyl Transferase Deficiency Type l (CPT-1) a - - - a b - - - - - - c -- b - - - - a - - - - -

Carnitine Palmitoyl Transferase Deficiency Type ll (CPT-2) a - - a b - - b b c a b a - - b a - - a -

Carnitine/Acylcarnitine
Translocase Deficiency (CAT) a - - a b - - - - c - b a -- - b a - - a - -

Long-Chain hydroxy Acyl-CoA Dehydrogenase Def (LCHAD) a c- - a b - - b b c a b a - - b a - - a -

Multiple Acyl-CoA Dehydrogenase Deficiency GA-II a - - a b - - b b c a b a - - b a - - a -

Short-Chain Acyl-CoA
Dehydrogenase Def. (SCAD) a - - a b - - b b c a b a - b a - - a -

Short-Chain Hydroxy Acyl -CoA Dehydr. Def. (SCHAD) - - - - - - - - - - - - c - a

Medium-Chain Acyl-CoA Dehydrogenase Def. (MCAD) a c c a - c a a a c

Trifunctional Protein Deficiency
(TFP) a - - - a b - - - - c - b a - - b a - - a - -

Long/Very Long-Chain Acyl-CoA Dehydrogenase Def .(LCAD/VLCAD) a - - a b - - b b c a b a - b a - - a -

2,4 Dienoyl-CoA Reductase
Deficiency - - -- - - b - - - - - - - - a b - - - - - a - - - -

Disorder                                   CA CT DE GA HI IA ID IL IN MD ME MA MN MS MT NC* ND NE NJ NY OH OR PA RI SC SD VA WI

Organic Acidemias

Glutaric Aciduria Type I
(GA-1) a - - a b - - b b c a b a - - b a - - a -

3-Hydroxy-3-Methylglutaryl
CoA Lyase Deficiency (HMG) a - - a b - - b b c a b a - - b a - - a -

Isobutyryl-CoA Dehydrogenase Deficiency a - - a b -- - - - - - - c - b a - - b - a - - a - -

Isovaleric Acidemia (IVA) a - - a b - - b b c a b a - - a - - a -

Malonic Aciduria - - - - - b -- - - - - - - c - - b a - - - - a - - a - -

3-Methylcrotonyl-CoA
Carboxyl Deficiency              (3-MCC) a - - a b - - b b c a b a - - b a - - a -

Methylmalonic Acidemia (MMA) a - - a b - - b b c a b a - - a - - a -

Mitochondrial Acetoacetyl-CoA Thiolase Def (3-Ketothiolase) a - - a b - - - b b - c a b a - - b a - - a -

Propionic Acidemia (PA) a - - a b - - b b c a b a - - a - - a -

2-Methylbutyrl-CoA
Dehydrogenase Deficiency a - - a b - - - - - - c - b a -- - b - a - - a - -

Multiple CoA Carboxylase
Deficiency a - - a - - - - - - - c - - - - - - b a - - - - -

Disorder                                   CA CT DE GA HI IA ID IL IN MD ME MA MN MS MT NC* ND NE NJ NY OH OR PA RI SC SD VA WI

Amino Acidemias and Urea Cycle Disorders -

Argininemia a - - a b - a b b c - - b a - - b a - - a - -

Argininosuccinate Lyase
Deficiency (ASA) a - - a b - - b b c - b a - a - - a

Carbamoylphosphate
Synthetase Deficiency (CPS) - - - - - - - - - - - - c - a

Citrullinemia a - - a b - a b b c - b a - a - - a -

Hyperammonemia,
Hyperornithinemia,
Homocitrullinuria (HHH) - - - - b - - - b b - c - b a - - - a - - a - -

Nonketotic hyperglycinemia - - - - - b - - - - - - - - - b a - - - a - - a - -

5-oxoprolinuria - - - - - b - - - - - - c - - b a - - - a - - a - -

Tyrosinemia type I a - - a b - - b b c - b a - - - a - - a -

Tyrosinemia type II a - - - a - - - - b b - c -