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BGI's thalassemia genetic test kit (combined probe anchored polymerization sequencing) recently passed EU CE-IVDD certification
The assay kit is based on next-generation sequencing (NGS) technology and uses a combined probe-anchored polymerization sequencing method to qualitatively detect α and β associated mutations
Genetic screening of the general population using peripheral blood samples can be used to determine whether they carry mutations associated with α or β thalassemia, and to diagnose patients with these mutations and suspected patients
Thalassemia is an inherited hemolytic anemia
It is estimated that 5-7% of the world's population carries a mutated gene that affects the production or function of hemoglobin molecules
Xiao Jingjing, senior product manager at BGI, said: "Screening for thalassemia through genetic testing is crucial so that carriers and high-risk couples can understand their risks and options for
References:
1 Eleftheriou, A.