GenomeDx™ ultraRapid

The GenomeDx^TM ultraRapid test is nuclear genome sequencing with our fastest available 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 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; mitochondrial genome results will not be included in a preliminary report.

Due to the expedited TAT, the biological relative specimens must be received with the patient specimen and all clinical information to begin testing. Testing will not be held for relative specimens.  If the relative specimens are not received, the test code will be modified to reflect the samples received, and any subsequent specimens received will only be eligible for targeted parental segregation analysis.

If any required information or samples are not available when the patient specimen is submitted, please inform us by emailing [email protected].

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

Please note the special shipping information for ultraRapid Genome Sequencing cases:

To avoid delays with the expedited turnaround time, use of the GeneDx ultraRapid shipping bag with the provided FedEx First Overnight shipping label is required. If you need a shipping label or bag, contact your account team or email [email protected] with “ultraRapid” in the subject line.