Positive and ambiguous results obtained with SALSA^® MC002 SMA Newborn Screen must be confirmed or verified with SALSA^® MLPA^® Probemix P021 SMA (version B1 or later) or an equivalent method.

The P021 SMA probemix can be used to confirm the absence of SMN1 exon 7 and to determine the SMN2 copy number. This can be done on DNA extracted from peripheral whole blood or from washed DBS cards from which DNA has been extracted following protocol C as described in the MC002 instructions for use. See the instructions for use of MC002 SMA Newborn Screen and the product description of P021 SMA for more details.

More information about the different SMA products available from MRC Holland can be on this page.