- Determination of a clinical diagnosis
- Identification of gene implicated in genetic disease
- Recurrence risk assessment
- Previously generated Next-Gen Sequencing Data
This test option is only appropriate if the patient previously had a XomeDx test (full exome analysis) at GeneDx. We recommend waiting at least two years from the original analysis before ordering a Reanalysis. Reanalysis involves reevaluation of reported variants from previous XomeDx tests and runs previously generated exome sequencing data through the current analysis pipeline with the intention of identifying causative variants through expansion of current disease gene knowledge base and bioinformatics improvements. Updated clinical information, if available, is requested to 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 XomeDx 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 variants.
- Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
- Alternative Specimen: Dried Blood Spots | Buccal Swabs
- Previous sample inquiries please email firstname.lastname@example.org
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Targeted Variant Testing