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Newborn Screening Tests at Woman’s Hospital Early screening for disorders that may affect your baby’s health is vitally important. Advances in technology make it possible to screen for more conditions than ever before. In many cases, that means more conditions can be treated because they are discovered early. The procedure is simple—a small amount of blood is taken from your baby’s umbilical cord or heel. At Woman’s Hospital, newborn screening tests for more than 40 disorders, shown in the list below.
Carnitine/Acylcarnitine Translocase Deficiency Carnitine Uptake Defect Carnitine Palmitoyl Transferase Deficiency I & II 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency 2, 4-Dienoyl-CoA Reductase Deficiency Medium Chain Acyl-CoA Dehydrogenase Deficiency Multiple Acyl-CoA Dehydrogenase Deficiency Trifunctional Protein Deficiency 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency Glutaric Acidemia Type I, II Isobutyryl-CoA Dehydrogenase Deficiency Isovaleric Acidemia 2-Methyl-3-Hydroxy Butyric Aciduria 2-Methylbutyryl-CoA Dehydrogenase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylglutaconic Aciduria Deficiency Methylmalonic Acidemias Methylmalonyl-CoA Mutase Deficiency Some Adenosylcobalamin Synthesis Defects Maternal Vitamin B12 Deficiency Beta Ketothiolase Deficiency Medium Chain Ketoacyl-CoA Thiolase Deficiency Propionic Acidemia Multiple- CoA Carboxylase Deficiency Malonic Acidemia The Amino Acid Profile screens for: Arginemia Argininosuccinic Acidemia Citrullinemia Homocystinuria Hypermethioninemia Maple Syrup Urine Disease Phenylketonuria Classical/Hyperphenylalaninemia Biopterin Cofactor Deficiencies Tyrosinemia Transient Neonatal Tyrosinemia Tyrosinemia Type I Tyrosinemia Type II Tyrosimenia Type III Other disorders that are screened include: Biotinidase Galactosemia Total Galactose HGB Profile Thyroid Screen CAH |
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