AccuCopy quantification combined with pre-amplification of LD-PCR (AQ-PLP) method for intron 22 inversion (Inv22) analysis.
Inv22 Genotyping results of 164 samples were consistent with those obtained by classic LD-PCR detection.
Limit of detection (LOD) of the carrier mosaicism test was at least 2% of heterozygous cells with Inv22.
AQ-PLP method was confirmed to be rapid and reliable for genotyping Inv22 and sensitive to carrier mosaicism detection.