Duo Whole Exome Sequencing
Use
Duo Whole Exome Sequencing (WES) is designed to identify genetic changes related to a patient's medical concerns. Unlike panel sequencing tests, which analyze specific genes, WES evaluates thousands of genes simultaneously by sequencing the coding regions, known as exons. This comprehensive approach can uncover the genetic basis for conditions such as congenital anomalies, neurodevelopmental disorders, and other syndromes. Given that most genetic errors leading to diseases are found in exons, WES represents a vital tool for discerning the underlying genetic causes of numerous health issues. The results, interpreted by experienced lab directors and clinicians, help guide further medical decisions.
Special Instructions
If a potential variant is discovered, RNA sequencing can be added to enhance variant classification. This additional test, RNAseq, should be chosen at the time of ordering, as it can only be conducted on blood specimens. If another sample is needed for RNAseq, Client Services will communicate with the provider.
Limitations
Turnaround time varies depending on the type of sample received, starting from when all necessary familial samples are collected. Interpretations of the results are contingent upon current scientific understanding, which may evolve. Diagnostic errors can arise from sample mix-ups or genetic variants that complicate analysis. Patients should consult a genetic counselor at Baylor Genetics if they suspect issues.
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 (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc (Infant<2yrs)
Container
EDTA tube(s)
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature by overnight courier; do not heat or freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |