517-335-9490

HawkinsH@michigan.gov

SERVICES PROVIDED

The Newborn Screening Section is the laboratory component of a comprehensive program to identify infants with rare inborn errors of metabolism and ensure that they receive timely intervention for their disorders.  This mandatory program is fee supported by the sale of the filter paper sample collection device.  The laboratory tests blood collected by heel stick and dried on filter paper.  Currently more than forty disorders are reported.  These conditions can cause developmental delays or death if not detected by the laboratory.  Newborn screening usually detects disorders before they are clinically identified.

The laboratory tests are performed with tandem mass spectrometry (TMS), high performance liquid chromatography (HPLC), isoelectric focusing (IEF), fluorometric, and colorimetric assays.

Depending on the situation or severity of the disorder, when an infant screens positive for one of the conditions, the baby's physician is notified by the follow-up office in the Bureau of Epidemiology, Epidemiology Services Division, or one of the  Medical Management Centers .  Another blood spot test or serum test might be needed.  On rare occasions an immediate referral to a specialist or hospital emergency room may be ordered.

The following list of the disorders screened is grouped by disorder type as identified by the American College of Medical Genetics in 2005.

1. Amino Acid Disorders
2. Fatty Acid Oxidation Disorders
3. Organic Acid Disorders  
4. Endocrine Disorders  
5. Enzyme Disorders  
6. Hemoglobinopathies  
7. Cystic Fibrosis