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Results

Negative results

A negative result means a mutated gene was not detected by the test, which can be reassuring, but it's not a 100 percent guarantee that you don't have the disorder. The accuracy of genetic tests to detect mutated genes varies, depending on the condition being tested for and whether or not the gene mutation was previously identified in a family member.

Even if you don't have the mutated gene, that doesn't necessarily mean you'll never get the disease. For example, the majority of people who develop breast cancer don't have a breast cancer gene (BRCA1 or BRCA2). Also, genetic testing may not be able to detect all genetic defects.

Inconclusive results

In some cases, a genetic test may not provide helpful information about the gene in question. Everyone has variations in the way genes appear, and often these variations don't affect your health. But sometimes it can be difficult to distinguish between a disease-causing gene and a harmless gene variation. These changes are called variants of uncertain significance. In these situations, follow-up testing or periodic reviews of the gene over time may be necessary.

Genetic counseling

No matter what the results of your genetic testing, talk with your doctor, medical geneticist or genetic counselor about questions or concerns you may have. This will help you understand what the results mean for you and your family.