Collection of Blood Samples for Development of Multi-disease Carrier Testing
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 发起方
- Natera, Inc.
- 试验地点
- 1
研究概览
简要总结
The purpose of this study is to collect blood samples to enable validation of genetic testing for diseases within a multi-disease carrier screening panel. Samples will be collected from adult women or men who have previously tested positive as carriers for various recessive conditions. These are healthy adults who carry a mutation that might place them at increased risk of having a child with a specific genetic disorder. Study participation will be open to adults that were previously tested as part of their routine medical care and where test results demonstrated positive carrier status for a specific genetic disease. Samples will be tested for the disease mutation for which the subjects provides documentation of prior testing.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 18 Years 至 —(Adult, Older Adult)
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •18 years of age or older
- •Individuals who are carriers of an SMN1 deletion consistent with Spinal Muscular Atrophy carrier status and are able to provide documentation of carrier status determined from prior testing
- •Able to provide a blood sample
- •Pregnant women may be include in the study
排除标准
- •Minors under the age of 18 years
- •Individuals who are not carriers of a Spinal Muscular Atrophy mutation
- •Individuals who are unable to provide documentation of Spinal Muscular Atrophy carrier status.
