Multi-disease Carrier Screening Test Validation
- Conditions
- Spinal Muscular Atrophy (SMA)Genetic TestingCarrier Screening
- Registration Number
- NCT01663584
- Lead Sponsor
- Natera, Inc.
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- WITHDRAWN
- Sex
- All
- Target Recruitment
- Not specified
- 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
- 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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Natera, Inc
🇺🇸San Carlos, California, United States