Positive and ambiguous results obtained with the SALSA® MC002 SMA Newborn Screen must be confirmed or verified with SALSA® MLPA® Probemix P021 SMA (version B1 or later) or SALSA® MLPA® Probemix P060 SMA Carrier.
The P021 SMA and P060 SMA Carrier probemixes can both be used to confirm the absence of SMN1 exon 7. If determination of the SMN2 copy number is part of your screening program, the P021 SMA probemix must be used for confirmation, as it provides additional information that can help determine the SMN2 copy number. If SMN2 copy number determination is not relevant for your screening strategy, the P060 SMA Carrier probemix can also be used, as its results are easier to interpret. Both probemix can be used on DNA extracted from peripheral blood and on DNA extracted from washed DBS cards following protocol C in the MC002 instructions for use.
More information about the different SMA products available from MRC Holland can be found in the MC002 instructions for use or on this page.