Why the study?
Does multiplexed real-time PCR allow simultaneous screening for SMA and SCID from a single newborn dried blood spot punch?
Does multiplexed real-time PCR allow simultaneous screening for SMA and SCID from a single newborn dried blood spot punch?
A multiplexed real-time PCR assay allows for the simultaneous newborn screening of SMA and SCID from a single dried blood spot.
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May enable combined SMA/SCID newborn screening from one DBS punch; leaves open large-scale validation and adoption.
SMA caused by the absence of SMN1 can be detected from the same DBS punch used to screen newborns for SCID.
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Taylor et al. (2014) studied this question.
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