GenomeDx™ Rapid

The GenomeDx Rapid test is nuclear genome sequencing with an expedited turnaround time (TAT). When variants selected for reporting require additional time for confirmation, a written preliminary report will be issued within the expedited TAT. Preliminary reports will contain pathogenic/likely pathogenic variants and variants of uncertain significance (VUS) identified by next generation sequencing that may be associated with the patient’s reported phenotype. In rare circumstances, when there is uncertainty whether a potentially relevant variant will confirm and a preliminary report is not able to be issued, GeneDx clinical staff will contact the ordering provider with an update on when a final report can be expected. A final written report will include all potentially clinically relevant variants from analysis of the nuclear genome, including ACMG secondary findings (if patient opts-in). Clients will be notified of any updates regarding diagnostic variants between the preliminary and final reports. A separate report for the mitochondrial genome will be issued around the same time as the nuclear genome result.

Because of the rapid TAT, samples from the proband and biological parents must be submitted at the same time, along with clinical information, in order to begin testing.

To ensure that family members are linked properly and in a timely manner, be sure to provide the following information on the test order and Sample Info Card submitted with the sample:

• Family member Name
• Family member Date of Birth
• Patient's Name
• Patient's Date of Birth
• Family member's relationship to patient

If all of the required information and/or samples are not available at the time the proband’s specimen is submitted, please inform us by emailing [email protected].