Duo or trio testing means sequencing is ordered with the inclusion of samples from biological relatives:
• Proband only: testing evaluates the child without any other relatives
• Duo: testing evaluates the child plus one biological parent
• Trio: testing evaluates the child plus both biological parents
The value of trio- or duo-based testing is that many genetic changes are able to be ruled out by comparing the patient’s sequence with their parents’.
Children who underwent family trio analysis were almost five times as likely to receive a diagnosis than those for whom neither parent took part, researchers showed in this Deciphering Developmental Disorders study.
Please note that each biological parent interested in providing a sample for testing must be present at the genetic counseling appointment.
What is duo or trio testing?
