Nancy K Meredith

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BACKGROUND The use of tandem mass spectrometry (MS/MS) for the analysis of amino acids and acylcarnitines from dried-blood spots (DBS) has become routine practice in newborn screening laboratories. The Newborn Screening Quality Assurance Program (NSQAP) added 3-hydroxyisovalerylcarnitine (C5OH) into its routine quality control and proficiency testing (PT)(More)
BACKGROUND Succinylacetone (SUAC) is the primary metabolic marker for hepatorenal tyrosinemia. MATERIALS AND METHODS We used results reported for dried-blood-spot proficiency testing (PT) specimens and hepatorenal tyrosinemia patients' newborn screening (NBS) samples to demonstrate analytic biases in SUAC recoveries and differences in presumptive clinical(More)
BACKGROUND Certain alleles among the genes that code for the human leukocyte antigens (HLA) confer susceptibility or resistance to the development of autoimmunity that causes type 1 diabetes (T1D). A number of ongoing diabetes research studies analyze dried blood spots (DBS) from newborn infants for HLA-D alleles to identify higher-risk children as early as(More)
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