Reanalysis of data from a previously-reported JHGDDL exome.

• Price: First reanalysis is performed free of charge; Subsequent reanalysis: $2,680.50
• CPT Code: 81417
• Turnaround Time: 3-4 weeks
• Platform: Exome + del/dup analysis

Test Requisition | Technical Details

Additional Information

Reanalysis of exome sequencing data may be ordered either between 1 to 3 years after the original test report was issued or in the case that the patient presents with a significant, clinically relevant change to their phenotype. The first reanalysis falling within these guidelines may be requested at no charge and any subsequent re-analysis will be charged according to current rates.

Reanalysis will focus on variants within genes associated with the new clinical manifestations and/or newly identified genes associated with the subject's original clinical features. The reanalysis may also disclose newly designated pathogenic or likely pathogenic variants based on new information. Variant interpretation will be based on current literature and data in public databases combined with phenotype information provided by the ordering provider. Of note, reanalysis may also reveal newly designated likely pathogenic or pathogenic variants in genes deemed medically actionable by the ACMG (i.e., secondary findings). We will communicate new secondary findings if your patient consented to receiving this information.