Whole Exome Sequencing-Trio Build info

Synonyms

• HG19-EXOME-V3
• HG19-EXOME-V3
• HG19-EXOV3
• WES TRIO
• LAB11622

Procedure Name

HG19-EXOME-V3

Procedure Master Number

LAB11622

Procedure ID

115559

Clinical Info

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.
Determination of a clinical diagnosis Identification of gene implicated in genetic disease Recurrence risk assessment This is a Trio test which includes the Patient, Mother and/or Father to be draw and submitted for testing.

Specimen Sources

Specimen Types

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood
Transport Temperature: Room Temperature

Specimen Volume

2 - 5 mL whole blood

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-gen Sequencing

Days Performed

TAT:  16 Weeks

Performing Laboratory

GeneDx

CPT

81415
81416x2

PDM

Only Orderable at Locations:

Results

Result Interpretation

See Report

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
 
 

Forms

• XomeDx Test Requisition Form
• XomeDx Family Member Requisition Form