Collection of Blood Samples for Development of Multi-disease Carrier Testing
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Spinal Muscular Atrophy (SMA)
- Sponsor
- Natera, Inc.
- Locations
- 1
- Status
- Withdrawn
- Last Updated
- 12 years ago
Overview
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •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
Exclusion Criteria
- •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.
Outcomes
Primary Outcomes
Not specified