December 12, 2014Open Access

Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

Does multiplexed real-time PCR allow simultaneous screening for SMA and SCID from a single newborn dried blood spot punch?

Population

Newborns undergoing blood spot screening

Intervention

Multiplexed Real-Time PCR using a single dried blood spot (DBS) punch

Outcome

Simultaneous detection of Spinal Muscular Atrophy (SMA) and Severe Combined Immunodeficiency (SCID)

A multiplexed real-time PCR assay allows for the simultaneous newborn screening of SMA and SCID from a single dried blood spot.

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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Cite This Study

Taylor et al. (Fri,) studied this question.

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