研究人员开发快速血液测试,精确度为83%的稀有遗传疾病诊断。 Researchers develop a rapid blood test that diagnoses rare genetic diseases with 83% accuracy.

来自墨尔本大学的研究人员开发了一项新的血液测试,通过对蛋白质进行测序而不是基因,可以迅速诊断数千种稀有遗传疾病。 Researchers from the University of Melbourne have developed a new blood test that can rapidly diagnose thousands of rare genetic diseases by sequencing proteins instead of genes. 测试只需要少量血液样本,并且可以区分携带者和受影响个人。 The test requires only a small blood sample and can differentiate between carriers and affected individuals. 精确度达到83%,它确定基因突变与稀有遗传疾病有关,有可能简化诊断和治疗。 With 83% accuracy, it identifies gene mutations linked to rare inherited diseases, potentially streamlining diagnosis and treatment.