Use

This expedited nuclear genome sequencing test is intended to provide a rapid molecular diagnosis in situations where clinical management may be impacted. Results include reporting of pathogenic/likely pathogenic variants and variants of uncertain significance (VUS) associated with the patient’s phenotype, and may include ACMG secondary findings if the patient opts in. Preliminary reports may be issued within the rapid turnaround time, with final written reports including all clinically relevant variants for the nuclear genome. A separate mitochondrial genome report is issued concurrently if applicable. Samples from proband and biological parents must be submitted simultaneously to ensure expedited processing.