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. Author manuscript; available in PMC: 2017 Feb 18.
Published in final edited form as: Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326

Fig. 5. Two-tier newborn screen for NPC1 disease.

Fig. 5

(A) Chromatograms of bile acid B in dried blood spots from a newborn control, adult NPC1 carrier, and NPC1 patient, as resolved with short LC (first-tier assay) and long LC conditions (second-tier assay). The bile acid B was eluted at 1.7 and 4.05 min under short and long LC conditions, respectively. There are two interferences eluted close to bile acid B. An interference peak presents in most newborn dried blood spots was baseline resolved from bile acid B under both short (1.63 min) and long LC (3.85 min) conditions. The dried blood spots from NPC1 subjects and carriers showed an interference peak that was co-eluted with bile acid B at 1.7 min under short LC condition, but baseline separated from bile acid B under long LC condition at 4.23 min. (B) Algorithm for two-tier newborn screening of NPC1 disease.