Carrier Screening, Genetic Testing, Spinal Muscular Atrophy (SMA)
Conditions
Keywords
Spinal Muscular Atrophy (SMA), Carrier Screening, Genetic Testing
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.
Interventions
PROCEDUREBlood draw
Sponsors
Natera, Inc.
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Countries
United States
Outcome results
None listed