Happy holidays! Please be advised that in-transit patient samples will be held by the carrier on Dec. 25 and received by our lab the next day. Kit orders placed on Dec. 25 will be sent on Dec. 26. Our genetic counseling services, client services, and billing services will be unavailable Dec. 24-25; please leave us a message at 888-729-1206 or support@genedx.com and we will respond when we return.

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Is sequencing via a trio better than a patient alone?

The diagnostic rate is highest when a trio is submitted/analyzed, as the inclusion of parental data improves the ability to classify variants. The absence of parental data may lead to the over reporting of variants of unknown significance that could otherwise be dismissed based on inheritance patterns.