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Test Code HG19-ExoV3 Whole Exome Sequencing (Trio)

Performing Laboratory

BioReference- GeneDx

Methodology

Next-gen Sequencing

Reference Values

See Report

 

 

TAT: 16 Weeks

 

 

Physician Office Specimen Requirements

Container/Tube:  Lavender top tube

Specimen: 2 - 5 mL whole blood

Transport Temperature: Room Temperature

 

Note: Parent's must be drawn at the time of collection for the TRIO

Computer Interface Code

PDM #  1659929

Useful For

  • Determination of a clinical diagnosis
  • Identification of gene implicated in genetic disease
  • Recurrence risk assessment

CPT Coding

81415

81416x2

Used For

XomeDx, or whole exome sequencing (WES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual and is best suited for patients who have a genetic condition that routine genetic testing has not been able to identify. The XomeDx test targets exons, which are the protein-coding regions of the human genome. Exons are captured and sequenced using massively parallel sequencing.” Or discuss secondary findings: “XomeDx and XomeDxPlus test reports will include secondary findings, if present in the proband, as published in the American College of Medical Genetics and Genomics Recommendations for Reporting Incidental Findings in Clinical Exome and Genome Sequencing. We actively look for variants in these genes, as recommended by the ACMG, and confirm reportable secondary findings by Sanger sequencing. GeneDx honors patient preferences and offers the choice to opt-out of receiving secondary findings. If a patient chooses to opt-out, patients must select the opt-out option on the test requisition form