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The Pennsylvania X-ALD newborn screening algorithm utilizes a tiered approach. C26:0-LPC is measured first with flow injection analysis tandem mass spectrometry (FIA-MS/MS), then with liquid chromatography tandem mass spectrometry (LC-MS/MS). Repeat dried blood spot samples were requested for newborns with concerning second-tier screens. Sequencing of the ABCD1 gene was performed for repeat specimens with C26:0-LPC exceeding the cutoff value.
