© 2008 Save Babies Through Screening Foundation. All rights reserved.
The Save Babies Through Screening Foundation is a not-for-profit organization recognized as tax-exempt under Internal Revenue Code section 501(c)(3).
Our mission is to improve the lives of children by working to prevent death and disabilities resulting from disorders detectable through newborn screening tests.
Save Babies Through Screening Foundation, Inc.
P. O. Box 42197 • Cincinnati, Oh 45242
Toll Free: 1-888-454-3383
Disease Descriptions
CORE PANEL as recommended by the American College of Medical Genetics (ACMG)
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)

3-OH 3-CH3 glutaric aciduria (HMG)

Argininosuccinic acidemia  (ASA)

Beta-Ketothiolase deficiency  (BKT)

Biotinidase deficiency  (BIOT)

Carnitine uptake defect (CUD)

Citrullinemia (CIT)

Classical galactosemia (GALT)

Congenital adrenal hyperplasia  (21-hydroxylase deficiency) (CAH)

Congenital hypothyroidism  (CH)

Cystic fibrosis (CF)

Glutaric acidemia type I (GA I)

HB S/C disease (Hb S/C)

Trifunctional protein deficiency (TFP)

Tyrosinemia type I (TYR I)

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)






























SECONDARY TARGETS as recommended by the American College of Medical Genetics (ACMG)
2-Methyl 3-hydroxy butyric aciduria (2M3HBA)

2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG)

3-Methylglutaconic aciduria (3MGA)

Argininemia (ARG)

Biopterin cofactor biosynthesis, defects of (BIOPT BS)

Biopterin cofactor regeneration (BIOPT REG)

Carnitine: acylcarnitine translocase deficiency (CACT)

Carnitine palmitoyltransferase I deficiency (liver) (CPT IA)

Carnitine palmitoyltransferase II deficiency (CPT II)

Citrullinemia type II (CIT II)

Dienoyl-CoA reductase deficiency (DE RED)

Galactokinase deficiency (GALK)

Galactose epimerase deficiency (GALE)

Glutaric acidemia Type II (GA 2)

Hypermethioninemia (MET)

Hyperphenylalaninemia, benign (H-PHE)

Isobutyryl-CoA dehydrogenase deficiency (IBG)

Malonic acidemia (MAL)

Medium/short-chain L-3-OH acyl-CoA dehydrogenase deficiency (M/SCHADD)

Medium-chain ketoacyl-CoA thiolase deficiency  (MCKAT)

Methylmalonic acidemia (Cbl C,D) (Cbl C,D)

Short-chain acyl-CoA dehydrogenase deficiency  (SCADD)

Tyrosinemia type II (TYR II)

Tyrosinemia type III (TYR III)

Variant Hb-pathies (including HB E) (Var Hb)