Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.

ABSTRACT:

Background

Newborn screening (NBS) for medium chain acyl-CoA dehydrogenase deficiency (MCADD), one of the most common disorders identified, uses measurement of octanoylcarnitine (C8) from dried blood spots. In the state of Ohio, as in many places, primary care providers, with or without consultation from a metabolic specialist, may perform "confirmatory testing", with the final diagnostic decision returned to the state. Confirmatory testing may involve measurement of metabolites, enzyme analysis, mutation screening, or sequencing. We now report sequencing results for infants said to have "false positive" NBS results for MCAD deficiency, or who died before confirmatory testing could be performed.

Methods

Dried blood spots (DBS) were obtained from all 18 available NBS cards id

SUBMITTER: McCandless SE 

PROVIDER: S-EPMC3676896 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature