作者
Whitney Besse
发表日期
2020/8/1
期刊
Kidney360
卷号
1
期号
8
页码范围
720-723
出版商
LWW
简介
The cohort was 57% white, 16% black, 8% Hispanic, 2% Asian, and 15% other. The average age was 30 years but ranged from infancy to later adulthood, and only a minority had known family history. For cases without pathogenic variants by WES on the aHUS panel testing, MLPA was run to assess CFHR gene cluster rearrangements. This study provides valuable insights into what is realistically found with clinically obtained genetic testing by representing one institution's experience. The cohort contains one of the largest groups tested for aHUS studied to date. In contrast to genetic research cohorts with defined phenotypic inclusion criteria, this cohort has many cases where the ordering physician requested the genetic testing for an unclear clinical diagnosis, often pediatric ESKD. As such, learning from each case is more valuable than considering the percentage of cases solved. The likelihood of an individual …
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