WES - Additional Affected Sibling
Use
The WES - Additional Affected Sibling test aims to identify changes in a patient's DNA that correlate with their medical conditions, particularly when previous testing has failed to provide a diagnosis. Unlike tests that examine one or a few genes, WES analyzes the exons of numerous genes simultaneously using advanced sequencing technology. This broad approach is particularly beneficial in scenarios where patients exhibit symptoms of a genetic disorder but lack a definitive diagnosis. If the patient has undergone multiple genetic tests without success, WES offers a comprehensive evaluation of the exomic regions, where most disease-causing mutations are found. This thorough analysis can help pinpoint genetic variations that may explain the underlying health issues and guide further clinical decisions.
Special Instructions
A complete Trio for the same biological family is required to interpret Sibling Trio results. If a qualified variant is identified, RNA sequencing (RNAseq) may be conducted for additional insights. Select RNAseq at the time of order to reflex to RNAseq if a qualified variant is found by WES. RNAseq is only feasible on blood specimens, and additional samples may be needed, with the Client Services team notifying the ordering provider if necessary.
Limitations
Testing limitations may arise due to low sample quality or insufficient coverage in certain regions of the genome. The interpretation of results relies on the availability of a comprehensive variant database and reference populations. Variants of uncertain significance may be returned, alongside benign or likely benign categorizations, which can complicate clinical decision-making. Additionally, exome sequencing may not identify every possible genetic alteration, particularly in non-coding regions or structural variants. If a Trio cannot be submitted alongside this test, it may result in limited interpretability of findings, underscoring the necessity for submitting full familial samples when possible.
New York Approved
Methodology
NGS (WES)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
3-5 cc (adults/children), 3 cc (Infant<2yrs)
Minimum Volume
3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA tube(s) and send
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Causes for Rejection
Sample must arrive within specified time frame
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hrs |