乳腺癌BRCA1/2检测试剂盒用于检测BRCA1和BRCA2两个基因的全部编码区域。该产品可以用于家族遗传性乳腺癌、卵巢癌的遗传风险评估或者卵巢癌Olaparib (Lynparza) 伴随诊断；适用于全血、组织、口腔唾液、FFPE样本。
技术指标
Targets | Coding regions of BRCA1 and BRCA2 genes | Packaging options | 12/24/96 reactions with dual indexing | Input DNA required* | >100 ng | Time required | 7 hours | Number of amplicons | 148 pairs of oligo probes in 1 pool | Amplicon size | 153-201 bp (average 183bp) | Target size | 17 kb | Percent on target | > 70% | Coverage uniformity＃ | > 95% | *As quantified by Qubit. ＃Percentage of bases covered at ≥20% of the mean coverage. |
实验结果 
500 ng of input DNA from a variety of sample types was used to generate libraries with the BRCA Panel. The coverage uniformity, as the percentage of the bases covered at least 20%, 30%, 40%, 50% or 100% of the average depth, was determined across sample types. The percentage of reads on target was > 70% for all sample types. 
测试20个样本使用BRCA试剂盒建库并上机测序（MiSeq)，在1000X测序深度情况下，BRCA所有148个扩增区域100%覆盖，所有扩增子深度在120-2970范围之间，100%区域满足BRCA生殖细胞突变检测对深度的要求（一般>50X即可）,具有非常好的实验重复性。 
| 
来宝会员