Spinal muscular atrophy (SMA), a genetic neuromuscular disorder and historically a leading genetic cause of infant mortality, is largely caused by the loss of the survival motor neuron 1 (SMN1) gene. The duplicate SMN gene, survival motor neuron 2 (SMN2), has been found to produce partial function and can partially compensate for SMN1 deletion and reduce SMA disease severity. Accurate and timely quantification of SMN1 and SMN2 copy numbers provides critical diagnostic and prognostic values for the disease. Here we describe a 4-color multiplexing digital PCR (dPCR) solution using the COMBiNATi Absolute Q dPCR system to meet the growing demand for rapid SMA newborn screening and treatment decisions.
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