What do the results of genetic test mean?

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A genetic test result can be positive, negative, or uncertain.

  • Positive result- A positive result implies the presence of a genetic abnormality or genetic mutation in one or more genes. A positive result indicates that you are at a greater risk of developing a hereditary disorder. Such a result will help your doctor in providing with early treatment measures.
  • Negative result– A negative test result simply means that no defective gene was identified upon analysis. However, a negative result does not rule out the absence or risk of a genetic condition because of the presence of undetected genes.
  • Uncertain result– An uncertain result is when one or more gene variants are found, but it is unclear whether the gene variants could cause of a  genetic disease or if they are a normal part of the person’s genetic framework. Uncertain results are usually common, especially when more number of genes are analyzed.

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