HG19-Exome-V3 HG19-ExoV3

Performing Laboratory

GeneDx

Collection Info

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood
Transport Temperature: Room Temperature
 
Note: Parent's should be drawn at the time of collection for the TRIO (1 Lavender top tube with correct label for Mother or Father)

Specimen Type(s)

Synonyms

Days Performed:

Methodology

Next-gen Sequencing

Sunrise Clinical Manager (SCM) Orderable

Not Orderable

Allscripts (AEHR) Orderable

HG19-Exome-V3

CPT

81415
81416x2

PDM

1659929

Reference Values

See Report
TAT: 16 Weeks
 
 

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. 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
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.