Clinical validation of a genetic test for hereditary conditions
Part of Cancer, Digestive system, Genetic & congenital, Hormones & metabolism, Skin, Women’s health & pregnancy clinical trials.
This study is testing a new genetic test (Sophia Genetics assay) to see how well it can identify inherited conditions like breast/ovarian cancer, Lynch syndrome, and intestinal polyposis. Your stored genetic sample may be used to help validate this test.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have a genetic sample (blood, DNA, or tissue) that was already tested with a Sophia Genetics product and sequenced on an Illumina machine.
- You must have a confirmed diagnosis of hereditary breast/ovarian cancer, Lynch syndrome, intestinal polyposis, or another rare hereditary disorder.
- A report of your genetic test results must already be available.
- You must have previously given consent for your genetic data to be used, and you must be aware of your genomic results.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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