Rapid Quad Whole Genome Sequencing (WGS)
Use
The Rapid Quad Whole Genome Sequencing (WGS) test is designed to identify genomic variations linked to medical concerns. This comprehensive test evaluates a broad spectrum of DNA errors, from single nucleotide variants (SNVs) to extensive alterations in genetic material. WGS serves as a superior tool for unearthing known and potential disease-causing variations, offering a more holistic approach compared to conventional tests aimed at specific genes. It particularly benefits individuals facing complex diagnoses, aiming to simplify the testing process by providing extensive insights into the whole genetic code in a single test.
Special Instructions
If a variant is detected by this test, optional RNA sequencing (RNAseq) can be selected to enhance the understanding of the variant's implications. It is crucial to order RNAseq concurrently to ensure timely processing should a qualified variant emerge. Note that RNAseq is limited to blood samples, and clients may need to provide additional specimens later if required.
Limitations
The quality of the sample is crucial for meeting turnaround time (TAT) requirements. Predictions and interpretations of nucleotide changes reflect the current understanding of various genes, which may evolve as new information emerges. Potential diagnostic inaccuracies may arise from various factors including sample mix-ups, genetic variant interactions, and incorrect biological parentage assignments, among others.
New York Approved
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc (adults/children), 3 cc (Infant<2yrs)
Minimum Volume
3 cc
Container
EDTA (purple-top) 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 |