Predicament and countermeasure of genetic diagnosis of neurogenetic diseases / 中华神经科杂志

ABSTRACT

With the increasing development of technology and decreasing costs over the years, genetic diagnosis is gradually becoming the ultimate means of diagnosing neurogenetic diseases. Clinicians often face various predicaments in the process of genetic diagnosis due to the high clinical variability and genetic heterogeneity of neurogenetic diseases. This editorial proposes countermeasures to address these predicaments and suggests that specialists in the field of neurogenetic diseases should not only be familiar with the clinical, genetic and causative genes of neurogenetic diseases, and the characteristics of genetic testing techniques, so as to develop the most reasonable genetic testing protocol, but also learn to correctly analyze and interpret genetic test results to avoid missed diagnoses and misdiagnoses.