Probe combination for diagnosing fibula amyotrophy, kit and application

The invention discloses a probe combination for diagnosing fibula amyotrophy, a kit and application, and belongs to the technical field of gene detection. Wherein the probe combination comprises at least one probe for targeting at least one gene of PMP22, GJB1, MFN2, MPZ, GDAP1, MORC2, SORD, NEFH, HSPB1, NEFL, PMP2, GLA, PRPS1 and TTR. The invention further discloses a kit containing the probe combination and application of the kit in diagnosis of bone amyotrophy. According to the probe combination or the kit, the accuracy of target gene variation detection can be remarkably improved, accurate auxiliary diagnosis of the fibula amyotrophy is further facilitated, and the probe combination or the kit has huge clinical application value. 本发明公开了一种用于诊断腓骨肌萎缩症的探针组合、试剂盒及应用，属于基因检测技术领域。其中，所述探针组合包括靶向PMP22、GJB1、MFN2、MPZ、GDAP1、MORC2、SORD、NEFH、HSPB1、NEFL、PMP2、GLA、PRPS1和TTR中的至少一个基因的至少一个探针。本发明还公开了包含所述探针组合的试剂盒以及在诊断骨肌萎缩症中的应用。本发明的探针组合或试剂盒能够显著提高目标基因变异检测的准确率，并进而有助于腓骨肌萎缩症的精准辅助诊断，具有巨大的临床应用价值。