套餐名称: BBS10 Bardet-Biedl综合征10型
检测机构: 柚子基因检测中心武汉服务处
套餐类别: 基因检测
适用人群:
Bardet-Biedl syndrome type 10 (BBS10) is a rare genetic disorder characterized by a combination of symptoms affecting multiple systems of the body. It is one of the several types of Bardet-Biedl syndrome (BBS), which is a group of genetic disorders that primarily affect the development and function of cilia.
Some common features of BBS10 include:
1. Obesity: Individuals with BBS10 may have early-onset obesity, usually starting in childhood or adolescence. This obesity is often difficult to manage and may be associated with metabolic abnormalities.
2. Vision problems: BBS10 can cause various vision abnormalities, such as retinal dystrophy, which can lead to progressive vision loss and eventual blindness. Other eye problems, such as strabismus (crossed eyes) and astigmatism, may also occur.
3. Polydactyly: Polydactyly refers to the presence of extra fingers or toes. BBS10 individuals may have extra digits, usually in the form of postaxial polydactyly (extra digits on the outer side of the hands or feet). Syndactyly (fusion of fingers or toes) may also be present.
4. Intellectual disability: Some individuals with BBS10 may have intellectual disability, which can range from mild to severe. Learning difficulties and developmental delays are also common.
5. Kidney abnormalities: BBS10 can affect the structure and function of the kidneys, leading to kidney malformations, such as cystic kidneys or renal dysplasia. These abnormalities may result in kidney dysfunction and can progress to end-stage renal disease (ESRD).
6. Hypogonadism: BBS10 individuals may experience hypogonadism, which refers to underdevelopment or dysfunction of the reproductive organs. This can result in delayed puberty, infertility, and hormonal imbalances.
7. Other features: Additional features that may be present in BBS10 include speech and language delays, behavioral problems (such as autism spectrum disorder), diabetes mellitus, and cardiovascular abnormalities.
BBS10 is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated BBS10 gene (one from each parent) to develop the syndrome. Genetic testing can be done to confirm the diagnosis of BBS10. Treatment options focus on managing the specific symptoms and complications associated with the syndrome, such as obesity management, vision aids, and kidney support. A multidisciplinary approach involving various medical specialists is typically required to provide comprehensive care for individuals with BBS10.
(现场加项、申请快递报告除外)
预约时间:为了保护您的隐私,需要至少提前1个工作日预约。
检测时间:工作日周一到周五8:00-17:00,来现场办理请出示预约信息,跟随工作人员办理。
检测地点:柚子基因检测中心武汉服务处
检测凭证:检测当天凭借预约信息,现场出示有效证件或预约短信即可检测,无需缴纳其他费用(现场加项或快递报告除外)
注意事项:当您预约套餐时,即表示接受工作人员采集或自行送检隐私样本。如因自身原因放弃检测套餐中的检查项目,网站将不予退款处理。
毛发样本采集方法
用手抓住毛发根部,迅速拔下3-5根毛发(毛发末端可以看到清晰的毛囊,即毛发根部白色物质)。
口腔拭子样本采集方法
将棉签在口腔内壁两侧反复摩擦10次,每人提取3根棉签,将成功采样的棉签自然阴干后包于纸巾内,然后装入对应的信封中,标记上样本所属人的身份和姓名。
血痕样本采集方法
采样时戴好手套,用酒精棉球擦拭被采样手指头部(建议选择无名指,疼痛感轻),待手指自然晾干后,用采血针轻刺指尖皮肤表面,待血液流出时,用准备好的纱布或采集卡轻轻擦拭,在其表面留下3-4个如黄豆大小的血迹即可,将采集好的血痕样本用白纸或者信封包好,标记上样本所属人的身份和姓名。