BGI Genomics Thalassemia Gene Detection Kit (Combinatorial Probe-Anchor Synthesis Sequencing Method) has recently obtained CE-IVDD approval.

The detection kit is developed based on the combinatorial probe-anchor synthesis sequencing method, a Next Generation Sequencing (NGS) technology, to qualitatively detect α-thalassemia and β thalassemia mutations.

Peripheral blood samples will be used for genetic diagnosis of patients and suspected patients with α and/or β thalassemia, abnormal hemoglobinopathy, as well as a screening of the carriage of the above mutations in the population.

It has been estimated that 5-7% of the world's population carries a mutated gene affecting the production or function of the hemoglobin molecule. This suggests that over 330,000 affected infants are born every year of which 17% are thalassaemia1.

Reference:
1. Eleftheriou, A. & Angastiniotis M. (2021). Global Thalassaemia Review 2021, Thalassaemia International Federation.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen China, is the world’s leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July of 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.