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Understanding genetic test results

There are three main outcomes of a genetic investigation:

In some cases, several different tests will have been performed to investigate one patient's sample. Clinical scientists collate all the results together and interpret what the results mean. All results are generally checked by two scientists to ensure a good level of quality assurance in the laboratory.

What does the report contain?

If the tests have been conducted in an NHS laboratory, once all tests have been completed and a clinical scientist has interpreted the results, a report is written, verified and sent to the clinician who requested the genetic test.

Most laboratories follow current best practice guidelines when writing a report, which are specific to certain techniques used or conditions tested for. Reports from NHS laboratories will often include:

The exact content and layout of reports may vary depending on the laboratory performing the genetic test.

Referring to a specialist for support

Genetic test reports contain complex information. Although most reports contain a summary, it is important to read the report in its entirety as there are often helpful recommendations regarding further patient and or family management. If you do not understand this information or do not feel comfortable explaining test results to your patient you can refer them to specialist genetics services or contact the laboratory for further advice. More information on referring patients to regional genetics services can be found on our 'Referrals to genetics services' page.