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2024_06_25_0bd9b5c3388b2f410d44g

一代分析结果  A generation's analytical results

检测基因 Genetic testing 基因组版本 Genome version 检测位置 Detection location 转录本 检测方法 Detection methods 核苷酸变化 Nucleotide changes 受检人 检测结果 Detection results
黎正华(父亲) Li Zhenghua (father) 杂合变异 Heterozygous mutation
COL7Al COL7A1 hg19 NM_000094 Sanger 测序 Sanger sequencing c. 黎正华(母亲) Li Zhenghua (mother) 无变异
黎正华(弟弟) Li Zhenghua (younger brother) 无变异
黎正华(父亲) Li Zhenghua (father) 无变异
COL7A1 hg19 chr3-48614204 NM_000094 Sanger 测序 Sanger sequencing c. 黎正华(母亲) Li Zhenghua (mother) 杂合变异 Heterozygous mutation
黎正华 (弟弟) Li Zhenghua (younger brother) 杂合变异 Heterozygous mutation
测序峰图展示: Sequencing peak map display:
受检人
纯合/杂合 Homozygous/Heterozygous
COL7Al 基因 COL7A1 gene

c.
p.Gly1332Arg
*本报告结果只对送检样品负责。 *The results of this report are only responsible for the samples submitted for inspection.
*以上结论均为实验室分析数据,仅供参考。此外,任何基因检测都存在极小概率的错误发生风险。
*The above conclusions are based on laboratory analysis data and are for reference only. In addition, there is a very small probability of errors occurring in any genetic testing.
蚑告内容未经授权, 不得复印传播、摘录出版。 The content of this notice is not authorized for copying, distribution, or excerpt publication without permission.
*本中心对以上分析结果保留最终解释权, 如有疑义, 请在收到结果后的 5 个工作日内与我们联系提出复检申请, 逾期不再受理复检。
*This center reserves the final interpretation right for the above analysis results. If you have any doubts, please contact us and apply for re-examination within 5 working days after receiving the results. No re-examination will be accepted after the deadline.