List of genetic tests and genetic information

The main sample was based on second-generation sequencing technology, and the exon-based region was captured using a capture probe (GenCap) to cover the exon of the target gene and the single nucleotide variation (SNV), short fragment insertion deletion (indel), gene copy number variation (CNV) of ±50bp. Analysis of the sample revealed A heterozygous mutation in the NR3C1 gene: A heterozygous mutation in nucleotide 1839 from thymine T to adenine A (c.1839T>A), resulting in amino acid 613 from tyrosine to terminator (p.Tyr613Ter).

本主要样本基于第二代测序技术构建，通过捕获探针（GenCap）捕获目标基因的外显子区域，包括目标基因的外显子及其单核苷酸多态性（SNV）、短片段插入/缺失（indel）以及基因拷贝数变异（CNV）±50碱基。样本分析结果显示，NR3C1基因中存在杂合突变：第1839个核苷酸由胸腺嘧啶T突变为腺嘌呤A（c.1839T>A），导致第613个氨基酸由酪氨酸突变为终止密码子（p.Tyr613Ter）。