Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
نویسنده : Man Jin Kim , Soo Yeon Kim , , Jin Sook Lee , , Sanggoo Kang , Lae-Jeong Park , , Wooyong Choi , , Ju Yeol Jung , , Taehyung Kim , , Sung Sup Park , Jung Min Ko , Moon-Woo Seong , , and Jong Hee Chae .
تاریخ انتشار : 1402/01/11
New genome sequencing technologies with enhanced diagnostic efficiency
have emerged. Rapid and timely diagnosis of treatable rare genetic diseases can alter
their medical management and clinical course. However, multiple factors, including ethical issues, must be considered. We designed a targeted sequencing platform to avoid ethical issues and reduce the turnaround time.
reference : Iranian Association of Clinical Laboratory Doctors