Rapid Proband Whole Genome Sequencing
Use
The Whole Genome Sequencing (WGS) test is designed to identify changes in an individual's DNA related to medical concerns. It offers a comprehensive analysis of the human genome, assessing various errors from single nucleotide variants to larger segment alterations. This test is invaluable for detecting known and potential disease-causing variations. Unlike gene-specific tests, WGS analyzes the complete genetic code, making it efficient for patients with broad differential diagnoses. It can provide diagnostic clarity in a single test, especially beneficial for critically ill patients where quick results can enhance clinical outcomes.
Special Instructions
If a qualified variant is identified, RNA sequencing (RNAseq) can be performed to aid in reclassifying the variant. RNAseq may provide additional functional insights and must be selected during the order process if desired. It is only performable on blood samples and may require additional samples for execution.
Limitations
Sample quality is crucial for meeting turnaround times. Blood samples are strongly recommended. The interpretation of nucleotide changes depends on current knowledge, which may evolve with ongoing research. Potential diagnostic errors could arise from sample mix-ups, variants interfering with analysis, and incorrect biological parentage assignments among other possible issues.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
3-5 cc (adults/children) and 3 cc (Infant<2yrs)
Minimum Volume
3 cc
Container
EDTA (Purple-Top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube and send the specified volume.
Storage Instructions
Ship at room temperature by overnight courier; do not heat or freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |