检测项目及文献
- 分类:遗传病检测
- 发布时间:2020-03-06 00:00:00
- 访问量:0
检测项目一览表
学科 |
检测内容 |
内分泌科 |
嗜铬细胞瘤和副神经节瘤(PPGL), 原发性醛固酮增多症(PA), 库欣综合征(CS) |
CAH, addison,高孕酮(21-OHD) |
|
低/高钾钠钙镁磷(低钾,低钙血症等) |
|
糖代谢(MODY, 新生儿,脂肪萎缩,高胰岛素,综合征疾病,低血糖,胰岛素抵抗等) |
|
甲状腺和甲状旁腺(甲减、生成障碍、激素抵抗、甲旁减/亢等) |
|
性发育(小睾丸,小阴茎,小阴囊,性功能减退,性幼稚,性早熟,多毛症,多囊卵巢,两性畸形,尿道下裂,隐睾,原发闭经,无精症,低/高雄激素等) |
|
肥胖(cushing,prader-willi 综合征等) |
|
垂体(肢大,尿崩症,联合垂体缺乏,低促性腺功能减退等) |
|
矮小(生长激素缺乏,不敏感,成骨不全,佝偻病,垂体,甲状腺等) |
|
消化/感染科 |
高血脂(高胆固醇,高甘油三酯,高载脂蛋白等) |
代谢性肝病(黄疸,铜离子代谢,胆汁淤积,肝脾肿大,肝硬化,GGT,ALP,转氨酶异常等) |
|
胆红素异常(gilbert,dubin,rotor等) |
|
脂质代谢异常(胆汁淤积,胆汁酸合成障碍,高脂血症等) |
|
酶代谢异常(卟啉病,蛋白酶缺乏疾病,硫酸酯酶缺乏等) |
|
金属元素(wilson,血色病等) |
|
氨基酸代谢异常(希特林蛋白缺乏,瓜氨酸血症等) |
|
糖代谢异常(糖基化病,糖原累积症,果糖,半乳糖,粘多糖贮积症等) |
|
线粒体缺陷(联合氧化磷酸化缺乏,线粒体复合体缺乏,线粒体DNA损耗等) |
|
发育不良(alagille,肝纤维化,囊性纤维化等) |
|
遗传性淀粉样变性,遗传性大肠息肉病 |
|
骨科 |
骨代谢疾病(成骨不全,佝偻病等),肌无力,共济失调等 |
风湿免疫科 |
自身炎症性疾病,免疫缺陷病 |
耳鼻喉科 |
耳聋 |
眼科 |
近视,远视,斜视,青光眼等 |
神经内科/外科 |
癫痫,脑小血管,脑大血管,动脉瘤,凝血功能异常等 |
血液科 |
贫血,球形红细胞增多症,再障等 |
肾内科/泌尿外科 |
肾消耗病,激素耐药型肾病综合征,肾小管发育不全,家族性局灶性节段性肾小球硬化,多囊肾等 |
呼吸科 |
哮喘,COPD,支扩,肺动脉高压,肺纤维化等 |
心血管科 |
brugada综合征,肥厚性心肌病,长QT综合征,扩张性心肌病等 |
儿科 |
智力障碍 |
发表文献
1. Chen X, Jiang J, Zhu W, Wu Y, Su M. Next-generation sequencing (NGS) as a molecular diagnostic tool for hypertrophic cardiomyopathy in a Chinese boy due to novel compound heterozygous mutations in the MYBPC3 gene: A case report.Medicine (Baltimore). 2019 Mar;98(12):e14676. doi: 10.1097/MD.0000000000014676.
2. Qian Z, Cui X, Huang Y, Liu Y, Li N, Zheng S, Jiang J, Cui S.Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.Mol Genet Genomic Med. 2019 May;7(5):e649. doi: 10.1002/mgg3.649. Epub 2019 Mar 18.
3. Miao H, Yu Z, Lu L, Zhu H, Auchus RJ, Liu J, Jiang J, Pan H, Gong F, Chen S, Lu Z.Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.Steroids. 2019 Oct;150:108448. doi: 10.1016/j.steroids.2019.108448. Epub 2019 Jul 11.
4. Ren Y, Xu LX, Liu YF, Xiang CY, Gao F, Wang Y, Bai T, Yin JH, Zhao YL, Yang J.A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. Medicine (Baltimore). 2018 Sep;97(37):e12295. doi: 10.1097/MD.0000000000012295.(acknowledgement)
5. Yuan X, Lu L, Chen S, Jiang J, Wang X, Liu Z, Zhu H, Pan H, Lu Z.A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report.BMC Endocr Disord. 2018 Sep 21;18(1):68. doi: 10.1186/s12902-018-0295-6.
6. Fu R, Lu L, Jiang J, Nie M, Wang X, Lu Z.A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia. Medicine (Baltimore). 2017 May;96(21):e6994. doi: 10.1097/MD.0000000000006994.
7. Jiang J, Wang HG, Wu WL, Peng XX. Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene. Chin Med J (Engl). 2017 Apr 20;130(8):1003-1005.
8. Wang H, Guo J, Jiang J, Wu W, Chang X, Zhou H, Li Z, Zhao J.New genes associated with rheumatoid arthritis identified by gene expression profiling.Int J Immunogenet. 2017 Apr 2.
9. Tong A, Jiang J, Wang F, Li C, Zhang Y, Wu X. PURE ANDROGEN-PRODUCING ADRENAL TUMOR: CLINICAL FEATURES AND PATHOGENESIS. Endocr Pract. 2017 Jan 17.
10. Cui Y, Tong A, Jiang J, Wang F, Li C.Liddle syndrome: clinical and genetic profiles. J Clin Hypertens (Greenwich). 2016 Nov 29.
11. Tong A, Liu G, Wang F, Jiang J, Yan Z, Zhang D, Zhang Y, Cai J.A Novel Phenotype of Familial Hyperaldosteronism Type III: Concurrence of Aldosteronism and Cushing's Syndrome. J Clin Endocrinol Metab. 2016 Nov;101(11):4290-4297. Epub 2016 Jul 12.
12. 彭向欣,姜君.一个中国Gilbert综合征家系的临床和遗传学特征分析.中华医学杂志.2010,90(24):1690-1693. (通讯作者)
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