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Test Code HG19V3 Proband XomeDx(Whole Exome Sequencing) Proband  

Performing Laboratory

BioReference- GeneDx

Methodology

Next-gen Sequencing

Reference Values

See Report

 

 

Specimen Requirements

Container/Tube:  Lavender top tube

Specimen: 2 - 5 mL whole blood

Transport Temperature: Room Temperature

Computer Interface Code

PDM #  1659932

CPT Coding

81415

Used For

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

Notes:

XomeDx, or exome sequencing (ES), 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.

XomeDx and XomeDxPlus test reports will include analysis of ACMG secondary findings in the proband unless the proband is opted-out. The presence of any secondary finding(s) reported for the proband will be provided for all relatives tested by XomeDx or XomeDxPlus. GeneDx does not conduct an independent evaluation of secondary findings in relatives as part of the proband’s XomeDx test.

**Due to extremely high demand for GeneDx’s exome and genome testing, current TAT may extend up to a few weeks longer for some cases. This does not affect TAT for XomeDxXpress, Priority or Prenatal. Please reach out to your local GeneDx Testing Specialist if you need further assistance. **