Stool Metagenomic Testing
Stool metagenomic test is the emerging and advanced study of microbes in the collected stool samples for DNA extraction and Metagenomics sequencing analysis to check both microbiome composition (including bacteria, fungus, virus) and genetic functional/metabolic profiles. It’s a more advanced microbiome study than 16s and provide direct genetic function and not limited by 16s region. There has been more and more evidence indicated that ASD is a systemic inflammatory condition and Microbiome disruption may be a key culprit of systemic inflammation; Autism is associated with altered gut microbiome; We improve autism by changing the gut microbiome; The more we know the specific changes of microbiome in ASD individuals, the more personalized and beneficial intervention be developed. We will provide a detailed report for microbiome relative abundance, network co-occurrence, potential pathogenic bacteria, fungus and virus, functional genes, metabolic changes, and association with clinical phenotypes. Our treatment suggestions will include diet, supplement, and drug intervention plan.
If you are interested in the test, please send request to [email protected]
We will send to you a stool collection kit with detailed instruction, you will collect your stool sample at home and send back to us, the report will mail to you in about 3 weeks. After you received the report, you could book a consultation for interpretation if needed.
大便宏基因检测，可以提供更精准的微生物检测，不同于16S，宏基因可以检测细菌，真菌，病毒在肠道的组成，还可以直接测定检测代谢产物及功能状态。是目前最为先进的微生物测定方法。很多研究表明自闭症和系统炎症密切相关，而肠道菌群是系统炎症的关键。自闭症患者的肠道菌群是有特征性改变的，改变肠道菌群可以改变自闭症表型。我们通过越是精准的测定肠道菌群的变化，我们越能制定更加个体化的更有效的干预方案。我们的宏基因检测可以报告菌群多样性，网络连接性，相对丰度，潜在致病菌，功能基因及代谢改变，与表型关系等，治疗建议包括饮食，药物及其他针对核心症状及合并的相关症状, 益生菌的个体方案。
如果您对这项测试感兴趣，您可以点击这里：
我们接到您的信息，会给您一个表格填写，然后给您寄一个大便收集的试剂盒，收集好寄回，预期3周左右收到结果。建议收到结果后做一个医生会诊解释这个结果以制定方案。
Genomic Testing
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic influences. There is an increasing demand for ASD genetic testing beyond the traditionally recommended microarray and syndromic autism testing. however, the current whole genome sequencing (WGS) and whole exome sequencing (WES) methods are lacking an academic standard for WGS variant annotation, reporting, and interpretation, tailored towards patients with ASD and offer very limited interpretation for clinical significance. Using WGS data from six family trios, we demonstrate the clinical feasibility and technical implementation of an evidence-based, fully transparent bioinformatics pipeline and report framework for an ASD-focused WGS genetic report. We confirmed a portion of the key variants with Sanger sequencing and provided interpretation with consideration of patients’ clinical symptoms and detailed literature review. Furthermore, we showed that identification of the genetic contributions of ASD core symptoms and comorbidities may promote a better understanding of the ASD pathophysiology, lead to early detection of associated comorbidities, and facilitate pharmacologic intervention based on pathological pathways inferred from the genetic information.
If you are interested in our service, you could send a request by click here for WGS or WES, or send your report or data for our review, we could offer interpretation service, we will provide WGS-based genetic report with clinical significance, and recommendations for next steps.
Reference： Huang, J.; Liu, J.; Tian, R.; Liu, K.; Zhuang, P.; Sherman, H.T.; Budjan, C.; Fong, M.; Jeong, M.-S.; Kong, X.-J. A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder. Cells 2022,11,10. https://doi.org/ 10.3390/cells11010010
自闭症是一组神经发育疾患受基因影响很大。基因检测的要求逐年增加，现在最新的全基因（WGS）及全外显子（WES）已经得到广泛应用，然而标准化的检测和自闭症相关突变及临床注释尚很缺乏。目前的很多报告系统不完善。我们发表了一套报告流程并附6个家庭的全基因检测证明临床可行性及技术可操作性。我们用一代测序证实相关突变，更重要的是和病人的临床症状及共病直接联系解读，更好理解自闭症发病机制，更好早期发现合并症，并基于基因信息理解病理通路找到干预靶点，提供个体化建议。
如果您对此有兴趣，可以[email protected]，可以送检全基因检测，或者把已有结果发送，申请我们的解读咨询。谢谢您的关注。
[References]
A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder
Jie Huang, Jun Liu, Ruiyi Tian, Kevin Liu, Patrick Zhuang, Hannah Tayla Sherman, Christoph Budjan, Michelle Fong, Min-Seo Jeong, Xue-Jun Kong*
Cells 2022, 11, 10. https://doi.org/10.3390/cells11010010 https://www.mdpi.com/journal/Cells
