Subsequent ExomeDx™ Reanalysis (charged)

This test option is appropriate for patients who have previously undergone ExomeDx Reanalysis (test code 660). We recommend waiting at least one year from the prior analysis before ordering a reanalysis. Reanalysis can also be considered if there are significant updates to the patient’s phenotype, including new diagnostic results (i.e., imaging studies or biochemical results).

Reanalysis involves review of previously generated exome sequencing data using current scientific and medical knowledge with the intention of identifying new causative variants and reevaluation of previously reported variants from prior exome testing. Note that previously generated data cannot be run through current bioinformatics pipelines and therefore will not be eligible for gene/variant detection updates that may have been made since the initial analysis.

Updated clinical information, if available, should be included with the reanalysis order. Additional relatives may be submitted for segregation analysis by targeted testing at the time of reanalysis for no additional charge. This may further assist in variant interpretation and classification.

New York State residents: Unless consent to retain remaining sample following exome testing was provided, an additional specimen from the proband and previously submitted relatives is required at the time of submitting an order for reanalysis to allow for confirmation of any newly discovered variants.