carriers of autosomal recessive disease alleles
Conditions
Interventions
None listed
Sponsors
Vrije Universiteit Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
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
Exclusion criteria: When information on the responsible mutations in the child is lacking
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary study parameter will be the diagnosis, by the 'blinded' laboratory, of carriership of both parents for the disorder of thier child. | — |
Secondary
| Measure | Time frame |
|---|---|
| Potentially we will find carriership of another recessive disorder, but the chance to do so is low | — |
Countries
Netherlands
Outcome results
None listed