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What do the results of genetic tests for genetic disorders mean?

The results of genetic tests can be hard to interpret. Before a person gets tested, he or she is encouraged to learn about the various possible meanings of the results.
A positive result generally means that a mutation in a gene or chromosome was detected. This could confirm a diagnosis that a person has a disorder, is a carrier, is at risk for getting the disorder, or a number of other possibilities.
A negative result means the laboratory did not find a change in a gene or chromosome, which can also indicate several different possibilities. It could mean that you are not a carrier, do not have a disease, or do not have a risk for a disease. It also could mean that more testing should be done for confirmation of the result.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.