Multi-disease Carrier Screening Test Validation

Natera

Status: Withdrawn

Conditions: Carrier Screening; Genetic Testing; Spinal Muscular Atrophy (SMA)

Treatments: Procedure: Blood draw

Study type: Observational

Funder types: Industry

Identifiers

NCT01663584

Natera014

Details and patient eligibility

About

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.

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.