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Rare Disease Forum by Genetidoc Genetic Clinic › Forums › Frequently Asked Questions › What does a “positive,” “negative,” or “uncertain” result mean?
What does a “positive,” “negative,” or “uncertain” result mean?
There are three possible outcomes for a genetic disorder. A positive result means a gene change linked to a condition was found. A negative result means no such change was found in the genes tested. Sometimes a result comes back as a “variant of uncertain significance,” meaning a gene change was found, but it is not yet clear whether it causes the condition. Your geneticist will explain what your specific result means and what, if anything, to do next.