Small molecule biochemical profiling of individual subjects for disease diagnosis and health assessment
申请人:Metabolon, Inc.
公开号:US10267777B2
公开(公告)日:2019-04-23
Methods are described herein for small molecule biochemical profiling of an individual subject for diagnosis of a disease or disorder, facilitating diagnosis of a disease or disorder, and/or identifying an increased risk of developing a disease or disorder in the individual subject. Aberrant levels of small molecules present in a sample from an individual subject are identified and diagnostic information relevant to the individual subject is obtained based on the identified aberrant levels. The obtained diagnostic information includes one or more of an identification of at least one biochemical pathway associated with the identified subset of the small molecules having aberrant levels, an identification at least one disease or disorder associated with the identified subset of the small molecules having aberrant levels, and an identification of at least one recommended follow up test associated with the identified subset of the small molecules having aberrant levels.
本文描述了对个体受试者进行小分子生化分析的方法,以诊断疾病或失调,促进疾病或失调的诊断,和/或确定个体受试者罹患疾病或失调的风险增加。确定个体受试者样本中存在的小分子的异常水平,并根据确定的异常水平获得与个体受试者相关的诊断信息。所获得的诊断信息包括:至少一个生化途径的鉴定,该生化途径与所鉴定的具有异常水平的小分子子集相关;至少一种疾病或紊乱的鉴定,该疾病或紊乱与所鉴定的具有异常水平的小分子子集相关;至少一种推荐的后续检测的鉴定,该检测与所鉴定的具有异常水平的小分子子集相关。