• Important Information for Parents and Families
• Newborn Screening Updates
• Important Information for Professionals
• Disorders Tested

Newborn Screening Program Adds Saturday Testing

The Newborn Screening (NBS) laboratory will begin Saturday testing on June 21, 2008.

These and other expanded services were required as part of recommendations by the MDCH Newborn Screening Quality Assurance committee that went into effect March 2007.  (Note:  Senate Bill 794 amended the 1978 Public Act 368 by adding sections 5430 and 5432).  

Initially the disorders that will be tested for are Congenital Adrenal Hyperplasia (CAH), Galactosemia (GALT) and those metabolic disorders diagnosed via Mass Spectrometry (Amino Acids, Fatty Acid Oxidation and Organic Acids).  Other disorders will be added at a later date (timeline to be determined).

To view complete accouncement letter:  Saturday Testing

Notice of Newborn Screening
Advisory Committee Meetings for 2008

The Newborn Screening Advisory Committee Meetings are tentatively scheduled from 1:00pm to 4:00pm on the third Wednesday of the months of April (4/16), August (8/20), December (12/17). For more information e-mail  mdch-newbornscreening@michigan.gov   

The next meeting is scheduled August 20, 2008 at
Children's Hospital of Michigan

State law    requires that all Michigan infants are screened for a variety of disorders at 24 to 36 hours of age. An  amendment   to this law was signed by Governor Granholm in February, 2006. The Newborn Screening Program is conducted jointly with the Bureau of Laboratories. Program efforts assure that: 1) all Michigan infants receive newborn screening; 2) follow-up for infants with positive screening tests have access to treatment and a medical home, and 3) provides long-term follow-up and monitoring of health outcomes.

Four  Medical Management Centers   provide diagnostic confirmation and treatment for affected children. The four centers are: Children's Hospital of Michigan Metabolic Clinic (CHMMC); Endocrine Follow-up Program (EFUP) at the University of Michigan; and, the Sickle Cell Disease Association of America (SCDAA), Michigan Chapter; Newborn Screening and Coordinating Program for Cystic Fibrosis at the University of Michigan.

  All infants born in Michigan are screened for fifty disorders.  Click for a   printable list of the disorders included   in the newborn screening panel.

Amino Acid Disorders: * Phenylketonuria (PKU) or Benign hyperphenylalaninemia or Biopterin cofactor biosysnthesis or Defects of biopterin cofactor regeneration (PKU/H-PHE/BIOPT(BS)/BIOPT(Reg)), * Maple Syrup Urine Disease (MSUD), * Homocystinuria (HCY) or Hypermethioninemia (HCY/MET), *Citrullinemia or Citrullinemia Type II or * Citrullinemia and Argininosuccinic Acid ( ASA) Tyrosinemia Type I (TYR I), Argininemia (ARG)

Fatty Acid Oxidation Disorders: Carnitine:acylcarnitine translocase deficiency or Carnitine palmitoyltransferase II deficiency(CACT/CPT II), Carnitine uptake defect (CUD), Carnitine palmitoyltransferase IA deficiency (liver) (CPT 1A), Short-chain acyl-CoA dehydrogenase deficiency (SCAD), Glutaric acidemia type II (GA II), * Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD), Long-chain L-3-OH acyl-CoA dehydrogenase deficiency or Trifunctional protein deficiency (LCHAD/TFP), Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT), Medium/short-chain L-3-OH acyl-CoA dehydrogenase deficiency (M/SCHAD), Dienoyl-CoA reductase deficiency (DE RED)

Organic Acid Disorders: Isovaleric acidemia or 2-Methyl butyryl-CoA dehydrogenase deficiency (IVA/2MBG), 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC), 3-OH 3-CH3 glutaric aciduria or 3-Methylglutaconic aciduria (HMG/3MGA), Beta-ketothiolase deficiency (BKT), Glutaric acidemia type I (GA I), Propionic acidemia or Methylmalonic acidemia (mutase deficiency) or Methylmalonic acidemia (Cbl A,B) or Methylmalonic acidemia (Cbl C,D) (PA/MUT/Cbl A,B/Cbl C,D), Multiple carboxylase deficiency (MCD), 2-Methyl 3 hydroxy butyric aciduria (2M3HBA), Malonic acidemia (MAL), Isobutyryl-CoA dehydrogenase deficiency (IBG)

Endocrine Disorders: * Congenital Adrenal Hyperplasia (CAH), * Congenital Hypothyroidism (CH)

Other Disorders: * Galactosemia (GALT), * Biotinidase Deficiency (BIOT), * Cystic Fibrosis (CF)

Hemoglobinopathies: * Sickle cell anemia  (Hb SS), Hb S/C Disease (Hb S/C), Hb S/Beta-thalassemia, (Hb S/Beta-Th), Variant Hb-pathies (Var Hb)

Hearing : Early Hearing Detection and Intervention (EHDI) Program