RNAseq for the Evaluation of Splicing and Cryptic or Unrecognized Effects
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 主要终点
- RNA analysis supports that the gene variant impacts gene expression
研究概览
简要总结
The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared to gene sequencing alone. Participants will be asked to share their medical history and prior genetic testing results, and to donate a blood sample for testing.
详细描述
Participant will come on site for a one-time blood draw. Study personnel will review prior medical history, family history, and prior genetic testing results gathered from the participant's medical record, along with analysis of RNA sequencing results derived from participant's blood sample. Results will be shared with participants through their clinical geneticist.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Other
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •individuals who have previously undergone gene panel testing, WES or WGS with no diagnostic findings but with high suspicion for a genetic etiology
- •individuals who have undergone genetic testing and who are found to have a truncating variant classified as pathogenic in a disease-causing gene but lack many/all symptoms typically associated with the disorder.
排除标准
- 未提供
结局指标
主要结局
RNA analysis supports that the gene variant impacts gene expression
时间窗: From analysis of RNA-Seq data to finalized summary of research results (up to 1 year)
RNA-Seq analysis shows that the gene variant of interest impacts the gene expression with either a decreased expression, increased expression, alternative splice product, or other.
次要结局
未报告次要终点