深圳安吉康尔医学检验实验室致力于遗传疾病的分子诊断，全面覆盖HGMD、OMIM、Clinvar等权威数据库中收录的遗传疾病相关致病基因，可为临床医生提供遗传疾病综合检测方案，灵活运用二代测序、Sanger测序、MLPA、PCR、长片段PCR、片段分析等多种分子诊断平台，检测相关致病基因的点突变、大片段缺失/重复、拷贝数变异、三核苷酸重复等多种基因变异类型，为临床提供全面、准确的分子诊断服务。 Genetic diseases refer to diseases caused by changes in genetic material. At present, genetic diseases are mainly divided into Monogenic diseases, chromosomal diseases, polygenic diseases, somatic genetic diseases, mitochondrial genetic diseases and so on. It is estimated that there are 900,000-1 million children with birth defects in China each year, accounting for about 5.6% of the total birth population, of which 70% are caused by genetic factors. More than 7,000 genetic diseases have been reported so far. Shenzhen Aegicare Medical Laboratory is committed to the molecular diagnosis of genetic diseases. It comprehensively covers the genetic disease-related pathogenic genes contained in authoritative databases such as HGMD, OMIM, and Clinvar. Aegicare can provide clinicians with a comprehensive genetic disease detection service by combining NGS sequencing, Sanger sequencing, MLPA, PCR, LR-PCR, fragment analysis and other molecular diagnostic platforms.
遗传疾病总量Total genetic diseases
遗传疾病已知基因突变数量Number of known gene mutations in genetic diseases
200X 增强全外显子测序覆盖所有疾病相关遗传信息enhance whole exon sequencing to cover all disease-related genetic information
自主开发专利WEAVER算法，完备注释，联合多种数据库，力求结果精准Independently develop patent Weaver algorithm, complete annotation, combine multiple databases, and strive for accurate results
实时更新Real time update
数据库定期更新，紧跟前沿研究，持续为客户更新报告Update the database regularly, keep up with the cutting-edge research, and continuously update the reports for customers
全外检测可实现点突变+单外显子级CNV分析Point mutation + single exon CNV analysis can be realized by total exon detection。
自动化报告解读系统，取样15个工作日出具标准的纸质版和电子版检测报告Automatic report interpretation system, sampling 15 working days to issue standard
美国遗传资质认证专家FACMG领衔200万例临床遗传病分析经验Analysis of 2 million cases of clinical genetic diseases led by FACMG
22,000多个基因和6,000多万个位点 The whole exome of normal somatic cells was sequenced, including 180,000 exons, more than 22,000 genes and more than 60 million loci
疑似遗传病患者Suspected genetic disease patients
具有相关疾病家族遗传史的健康人Healthy people with family history of related diseases
复杂遗传病患者的父母Parents of patients with complex genetic diseases
3-5ml外周血3-5ml peripheral blood
免费家系验证Free family verification
循证治疗方案Evidence based treatment
随着检测技术的更新迭代，人们对肿瘤的驱动基因、致病基因以及耐药基因的研究越来越深入，更多的基因被发现与肿瘤治疗药物的治疗效果密切相关。公司依托国际领先的基因组数据分析算法、专业的FACMG遗传咨询专家，辅助患者和医生进行肿瘤临床决策。 Cancer is a complex genetic disease. Hereditary cancer is caused by genetic mutation and is common in two or three generations of the same family with the same type of cancer, and the age of onset is lower than the average age of such cancers.
With the development of detection technology, we have more knowledge regarding pathogenesis of cancer, and more genes have been found to be closely related to the therapeutic effects of cancer treatment drugs. Aegicare relies on the world's leading genomic data analysis algorithm and professional FACMG genetic consulting experts to assist patients and doctors in making clinical decisions in cancer therapy.
注：黑色圆点代表该基因与疾病相关度较高。Note: the black dot indicates that the gene is highly related to the disease.
|癌症cancer||乳腺癌breast cancer||卵巢癌ovarian cancer||子宫内膜癌endometrial cancer||结直肠癌colorectal cancer||黑色素瘤melanoma||胰腺癌pancreatic cancer||胃癌gastric cancer||前列腺癌prostatic cancer|
34个基因 Breast cancer, ovarian cancer, endometrial cancer,
colorectal cancer, melanoma, pancreatic cancer, gastric cancer, prostate cancer, a total of 8 common cancer 34 genes
有肿瘤家族病史人群People with cancer family history
有慢性疾病史人群People with a history of chronic diseases
3-5ml外周血液3-5ml peripheral blood
一次性检测8种常见癌症共34个基因 A total of 34 genes were detected in 8 common cancers at one time
精准定量分析拷贝数变异和结构性变异，提供肿瘤精准分型 Accurate and quantitative analysis of copy number variation and structural variation to provide accurate tumor typing
全面检测肿瘤基因组异质性 Comprehensive detection of tumor genomic heterogeneity
机器学习方法推断肿瘤基因组演化树和肿瘤早期驱动突变，为早期筛查和精准用药提供靶点 Machine learning method infers the evolutionary tree of tumor genome and early driven mutation of tumor, which provides the target for early screening and precise drug use
遗传疾病种类繁多，大多数疾病患病后果严重，对人类健康造成很大威胁。研究发现，平均每个人携带2.8个隐性遗传病的致病突变，这就意味着看似健康的夫妻，也可能会“非常巧合地”携带了相同的致病突变，他们的后代有1/4的患病机率，这些是常规体检无法检测出来的。遗传疾病携带者筛查可及时发现致病基因携带情况，在帮助携带者了解自身健康状况的同时有效避免严重缺陷患儿的出生，做到真正意义上的优生优育。 Carrier screening is a genetic test used to determine if a healthy person is a carrier of a recessive genetic disease. It provides life-lasting information about an individual's reproductive risk and their chances of having a child with a genetic disease.
It has been reported that, an individual on average carries 2.8 genetic variants for severe autosomal-recessive disorders, which means that healthy couples are at risk of giving birth to a sick child. In an autosomal recessive disorder, there is 25% chance of having an affected kid in each pregnancy, if the couples happen to carry mutations in the same gene.
Aegicare Carrier Screening tests 182 genes that are responsible for severe autosomal recessive and X-linked recessive diseases, and could help couples to make better reproductive decisions and reduce birth defects.
筛查超过150种遗传代谢类、神经系统、血液系统、免疫与内分泌系统等常染色体隐性遗传病和X染色体连锁遗传病。Screening more than 150 kinds of autosomal recessive genetic diseases and X-linked genetic diseases such as genetic metabolism, nervous system, blood system, immune and endocrine system
普通正常人群General normal population
有不良生育史的育龄夫妇Couples of childbearing age with a history of bad childbearing
血缘关系相近的夫妇A couple of close blood ties
表型正常无特殊家族史的育龄夫妇Couples of childbearing age with normal phenotype and no special family history
3-5ml外周血3-5ml peripheral blood
临床亚全外检测，一次性筛查所有已知隐性遗传致病突变Clinical exome sequencing, screening all known recessive pathogenic mutations at once
CLIA/CAP标准临检实验室，保证检测结果准确、快速CLIA/CAP standard clinical laboratory to ensure accurate and fast test
实时更新的权威数据库，专门根据中国人群比对分析Authoritative database updated in real time, specifically based on the Chinese population