A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locus.
Min WenHui HuangFei HuangRu XuJing ZhangJia-Geng FanJun ZengKai-Wen JiangDing LiuHua-Lin HuangQing-Nan HePublished in: Molecular genetics & genomic medicine (2024)
Based on the above studies, we emphasize the routine targeted high-throughput sequencing of the c.649 site in the PRRT2 gene in so-called genetic-testing-negative patients with PKD, and manually calculate the deletion and duplication mutations depth and ratios to lower the rate of clinical misdiagnosis.
Keyphrases
- genome wide
- high throughput
- copy number
- high throughput sequencing
- cancer therapy
- genome wide identification
- dna methylation
- optical coherence tomography
- clinical practice
- drug delivery
- gene expression
- polycystic kidney disease
- loop mediated isothermal amplification
- real time pcr
- catheter ablation
- sensitive detection