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ClinicalTrials.gov Identifier: NCT01663584
Recruitment Status :
(Samples were not needed for test development, therefore subjects were not recruited or enrolled)
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.
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Ages Eligible for Study:
18 Years and older (Adult, Senior)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Study participation will be open to individuals who have tested positive for carrier status of a specific genetic disease or mutation and are able to provide documentation of their test results.
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.