A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population

CONCLUSION: In summary, SNaPshot can accurately and rapidly detect PAH gene variants at a comparable performance and lower cost as compared with NGS. Our results suggest that SNaPshot may serve as a promising approach for a routine genetic test in clinical practice.PMID:34653385 | DOI:10.1016/j.cca.2021.10.009

Source: International Journal of Clinical Chemistry - October 15, 2021 Category: Chemistry Authors: Binbin Shao An Liu Jingjing Zhang Yan Wang Fengchang Qiao Cuiping Zhang Yuqing Zhu Yingchun Lin Ping Hu Tao Tao Zhengwen Jiang Jianxin Tan Zhengfeng Xu Source Type: research