NEW YORK — BGI Genomics said on Thursday that it has received CE-IVD marking for its next-generation sequencing-based test for thalassemia mutation detection.
The Thalassemia Gene Detection Kit (Combinatorial Probe-Anchor Synthesis Sequencing Method) qualitatively detects the mutations that cause alpha- and beta-thalassemia, two heritable disorders characterized by low hemoglobin levels. The test is designed for screening the general population, as well as to diagnose patients carrying the mutations and experiencing abnormal hemoglobinopathy, the company said.
"Screening for thalassemia through genetic testing is vital so that carriers and at-risk couples may be informed about their risk and the options for reducing it," Jingjing Xiao, senior product manager at BGI Genomics, said in a statement.
BGI Genomics is the clinical genetic testing and research services arm of China's BGI Group.