Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes

Recruiting Observational Study
Rare Diseases Genetic Predisposition
No Placebo Group Every participant receives an active treatment — no one gets a placebo. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
12,000 (estimated)
Sponsor
University Hospital Tuebingen · Other
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About This Trial

For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.

Trial Locations
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Eligibility Criteria
Inclusion Criteria: * Patient with genetic disease or * Family members * Genetic analysis between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen Exclusion Criteria: \- None
Contacts

Tobias Haack, Dr.

+49 7071 298

tobias.haack@med.uni-tuebingen.de

CONTACT

Olaf Rieß, Prof. Dr.

+49 7071 298

olaf.riess@med.uni-tuebingen.de

CONTACT