Multi-disease Carrier Screening Test Validation
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 3/30/2013 |
| Start Date: | August 2012 |
Collection of Blood Samples for Development of Multi-disease Carrier Testing
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.
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.
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