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Supplemental Newborn Screening for Inherited Metabolic Disorders

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Mayo Medical Laboratories offers Supplemental Newborn Screening for Inherited Metabolic Disorders (Test Code #82594)

Supplemental newborn screening identifies the need for early treatment in babies who have a metabolic disorder detectable by tandem mass spectrometry. These metabolic disorders affect approximately 1 in 4,000 babies. Mayo's expanded screen tests at birth for more than 30 disorders, which allows initiation of treatment before the infant suffers lasting harm.

Introduction

Newborn baby

Laboratory analysis of blood spots dried on filter paper plays an important role in preventive medicine. Prior to 1990, infants were only screened for a few disorders. This situation changed dramatically when tandem mass spectrometry (MS/MS) was introduced into a few newborn screening laboratories worldwide. MS/MS can detect more than 30 additional disorders in a single blood spot by simultaneous acylcarnitine and amino acid analyses (Table 1). These disorders are caused by genetic (inherited) defects in protein and fatty acid metabolism. Affected children typically appear normal at birth. Symptoms usually manifest acutely during the first year of life, but adult onset has also been described. These acute metabolic decompensations can result in severe long-term complications and frequently death. The ability to identify affected newborns before the onset of symptoms can dramatically improve the prognosis of most patients.

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