Exome sequencing of consanguineous couples 1: Proof of principle
Completed
- Conditions
- carriers of autosomal recessive disease alleles10083624
- Registration Number
- NL-OMON37790
- Lead Sponsor
- Vrije Universiteit Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 10
Inclusion Criteria
Consanguineous and non-consanguineous couples who have or had a child with an autosomal recessive disorder, whose DNA's (of couple and child) have not been tested before in the laboratory involved in the exome sequencing (in order to guarantee that the testing is performed blindly)
Exclusion Criteria
When information on the responsible mutations in the child is lacking
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The primary study parameter will be the diagnosis, by the 'blinded' laboratory,<br /><br>of carriership of both parents for the disorder of thier child.</p><br>
- Secondary Outcome Measures
Name Time Method <p>Potentially we will find carriership of another recessive disorder, but the<br /><br>chance to do so is low</p><br>