SPAST and Miyoshi myopathy: Although SPAST was shown to be the most suitable reference gene from tumor tissue MM samples and healthy skin samples (based on our MLPA results; data not shown) and was used as the only reference gene in non-invasive cfDNA analysis, inconsistent results when compared with lcWGS results suggest that in case of detection CNVs from circulating DNA, the inclusion of multiple reference genes would help to obtain a better and more balanced reference value.