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).
Use of the P021 SMA probemix allows the determination of the exon 7 copy number of both SMN1 and SMN2, and provides additional information that can help with result interpretation. This 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.