Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes
Launched by UNIVERSITY HOSPITAL TUEBINGEN · Jan 26, 2021
Trial Information
Current as of June 26, 2025
Recruiting
Keywords
ClinConnect Summary
This clinical trial is focused on understanding how effective advanced genetic tests, like exome and genome sequencing, are in diagnosing rare diseases and certain inherited tumor syndromes. The researchers are looking back at records from about 12,000 patients who had genetic tests done between October 2016 and December 2020. They want to see how these modern methods compare to traditional diagnostic techniques in identifying genetic conditions.
If you or a family member has a genetic disease and have undergone genetic testing during the specified period at the University Hospital Tübingen, you may be eligible to participate in this study. There are no strict age or gender requirements, and they welcome anyone with a genetic condition or their family members. Participants can expect to contribute to important research that could improve how these diseases are diagnosed in the future, helping doctors understand the best ways to use genetic testing.
Gender
ALL
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
About University Hospital Tuebingen
University Hospital Tübingen is a leading academic medical institution in Germany, renowned for its commitment to advancing healthcare through innovative research and clinical excellence. As a prominent sponsor of clinical trials, the hospital leverages its multidisciplinary expertise and cutting-edge facilities to develop new therapeutic strategies and improve patient outcomes. With a strong focus on translational medicine, University Hospital Tübingen collaborates with various stakeholders, including pharmaceutical companies and research organizations, to facilitate the efficient and ethical conduct of trials across a wide range of medical disciplines. Their dedication to patient-centered research and rigorous scientific standards positions them at the forefront of medical advancements.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Tübingen, , Germany
Patients applied
Trial Officials
Tobias Haack, Dr.
Principal Investigator
University Hospital Tübingen
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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