Genetic Screening

What do the test results mean?

If certain compounds are found in the blood or urine, the screening test is said to be positive. This means that there is reason to believe that a genetic disease is present. There are many false positives. Therefore, a more refined test is done on all positive cases. If the refined test is positive, the genetic disease is present and treatment is started. DNA tests are accurate. If the results are positive, the potential for the disease is present and action is taken. Genetic counseling may be appropriate. Chromosome analysis is also accurate. If the results are positive, there is a risk to pass on a genetic disease and action is taken.