Dear Respected Scientists,

Can we trust the results if MLPA data from amniotic samples for SMA indicates a ligation failure warning but shows normal peak heights in GeneMarker software?

We also faced an issue with another sample. The initial SMA MLPA test showed a homozygous loss of SMN2 exon 8 and a heterozygous loss of SMN1 exon 8. However, retesting resulted in normal findings. Notably, there were no evaporation alarms, suggesting the ligation procedure was successful.