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newborn screening program >  screenings

Optional Disorders

In Massachusetts, you will have the option of having your baby screened for early signs of the following disorders: (no additional blood required)

Pilot Study #1: Cystic Fibrosis
Pilot Study #2: A Group of 19 additional metabolic disorders

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Tyrosinemia I Tyrosinemia II
HMG Lyase Deficiency Argininosuccinic Aciduria
Isovaleric Acidemia HHH Syndrome
Glutaric Acidemia I Glutaric Acidemia II
Citrullinemia Argininemia
CPT Deficiency Propionic Acidemia
Methylmalonic Aciduria ß-Methyl Crotonyl Carboxylase
LCHAD [long-chain hydroxyacyl-CoA dehydrogenase deficiency]
VLCAD [very-long-chain acyl-CoA dehydrogenase deficiency]
SCAD [short-chain acyl-CoA dehydrogenase deficiency]
LCAD [long-chain acyl-CoA dehydrogenase deficiency]
ß-Ketothiolase Deficiency [2-methylacetoacetyl-CoA thiolase deficiency]


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This is an official Page/Publication of the University of Massachusetts Worcester Campus
New England Newborn Screening Program 305 South Street Jamaica Plain, Massachusetts 02130-3597
Questions or Comments? Email: nbs@umassmed.edu Phone: 617-983-6300
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