医学检测CLINICAL DIAGNOSTICS

遗传疾病精准诊断Genetic Diseases Diagnosis

遗传疾病是指由于遗传物质改变导致的疾病。目前遗传疾病主要分为单基因病、染色体病、多基因病、体细胞遗传病、线粒体遗传病等。据估计我国每年有90-100万出生缺陷患儿,约占出生总人口的5.6%,其中70%是由遗传因素导致的。目前已经报道的遗传疾病有7000多种。
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.

遗传性肿瘤精准诊断Hereditary Cancer Diagnosis

肿瘤是一种复杂的基因病,遗传性肿瘤是由遗传基因突变引起的肿瘤,常见于同个家族的两三代人患有相同类型的肿瘤,并且发病年龄都低于此类肿瘤的平均年龄。
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
BRCA1
BRCA2
MLH1
MSH2
MSH6
PMS2
EPCAM
APC
MUTYH
MITF
BAP1
CDKN2A
CDK4
TP53
PTEN
STK11
CDH1
BMRP1A
SMAD4
POLD1
POLE
PALB2
CHEK2
ATM
NBN
BARD1
BRIP1
RAD51C
RAD51D
BLM
MRE11
RAD50
XRCC2
GREM1

遗传疾病携带者筛查Carrier Screening

遗传疾病携带者筛查,是为了预防隐性遗传病的发生,采用特殊设计捕获探针和高通量测序技术,筛选出群体中表型正常的隐性致病突变携带者,对其进行风险评估和生育指导。
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.