MRC Holland’s MC002 SMA Newborn Screen is based on melt curve analysis – a simple and affordable technique which utilizes the fact that different genetic sequences targeted by the same probe will display different DNA melting temperatures. Following a PCR amplification and a probe binding step, peaks specific for SMN1 and SMN2 are generated. The method is highly sequence-specific, sensitive, and easy to perform. Requiring only a dried blood spot (DBS) card as input, the assay accurately determines the presence or absence of the SMN1 and SMN2 gene, reliably identifying SMA patients (0 SMN1 copies) - but not carriers (1 SMN1 copy).
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