NCT01663584

Multi-disease Carrier Screening Test Validation

Collection of Blood Samples for Development of Multi-disease Carrier Testing

• Status: Withdrawn
• Phase: —
• Study type: Observational
• Enrollment: 0 (actual)
• Sponsor: Natera, Inc. · Industry
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Spinal Muscular Atrophy (SMA)
• Carrier Screening
• Genetic Testing

Interventions

Type	Name	Description
PROCEDURE	Blood draw

Timeline

• Start date: 2012-08-01
• Primary completion: 2013-06-01
• First posted: 2012-08-13
• Last updated: 2013-07-16

Locations

1 site across 1 country: United States