Whole Exome Seq- TRIO HG19-ExoV3
Synonyms |
|
Allscripts (AEHR) Order Name |
Whole Exome Seq-TRIO |
Sunrise Clinical Manager (SCM) Order Name |
Not Orderable |
EPIC Order Name |
|
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. |
Specimen Type |
|
Container |
Lavender Top Tube |
Collection Instructions |
Container/Tube: Lavender top tube |
Transport Instructions |
Room Temperature |
Specimen Stability |
|
Methodology |
Next-gen Sequencing |
Days Performed |
TAT: 16 Weeks |
Performing Laboratory |
GeneDx |
CPT |
81415 |
PDM |
1659929 |
Result InterpretationSee 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 |