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Multi-disease Carrier Screening Test Validation

NCT01663584 · Status: WITHDRAWN · Type: OBSERVATIONAL

Last updated 2013-07-16

No results posted yet for this study

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

PROCEDURE

Blood draw

Sponsors & Collaborators

  • Natera, Inc.

    lead INDUSTRY

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-08-31
Primary Completion
2013-06-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01663584 on ClinicalTrials.gov