What do the different test results mean?
Last modified: July 21, 2022

Positive

This result indicates that a likely pathogenic or pathogenic genetic mutation has been identified, and it is most likely causing the disease and symptoms the patient has.

Inconclusive

This result indicates that a variant of uncertain significance was identified, and it is not yet known whether the variant is associated with the disease and symptoms the patient has.

Negative

This result indicates that no likely pathogenic or pathogenic mutation was identified. There is a possibility that the disease the patient has does not have a genetic origin, is not yet defined due to insufficient or unclear gene-disease association, or cannot be detected with today’s diagnostic technology.

For more details, please refer to our white paper.