Whole Exome Sequencing Reflex
Use
Whole Exome Sequencing Reflex is indicated for patients that have undergone prior genetic testing without identifying a molecular diagnosis. It serves individuals with complex medical histories, including those with multiple congenital anomalies, neurodevelopmental disorders, and extensive differential diagnoses. By analyzing the exome—3% of the human genome containing vital DNA sequences—this test identifies genetic changes that could elucidate underlying medical concerns. Whole Exome Sequencing offers a broad analysis compared to targeted tests, extracting valuable insights that often lead to a clearer understanding of a patient's condition. It addresses potential genetic etiology by sequencing thousands of genes and comparing results against normal population standards, assisting healthcare providers in making informed decisions regarding patient care.
Special Instructions
Turnaround time for Whole Exome Sequencing Reflex begins from the completion of any NGS panels that are eligible for reflex to WES. This test can be selected on the NGS Requisition at the time of the initial order for eligible panels. It may also be ordered for previously reported NGS panels by selecting the desired order in the ordering portal and activating the 'Reflex' option.
Limitations
Interpretation of the nucleotide changes relies on current knowledge and may evolve as new genetic information emerges over time. Diagnostic errors could occur due to sample mix-ups, variants that hinder analysis, incorrect biological parentage assignments, or similar issues. For concerns regarding potential errors, consultation with a genetic counselor at Baylor Genetics is recommended. Key issues might include the limitations of analyzing only coding regions and potential oversight of non-coding variants that could also be clinically relevant.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Other (Unknown)
Volume
2 mL
Minimum Volume
1 mL
Container
EDTA tube
Collection Instructions
Collect whole blood in an EDTA tube.
Patient Preparation
No special preparation required.
Storage Instructions
Store at room temperature. Do not freeze.
Causes for Rejection
Sample mix-ups or insufficient volume.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 7 days |
| Frozen | Not recommended for frozen storage. |