Rapid Whole Genome Sequencing (Change effective as of 01/20/26: Refer to 3019947 in the January Hotline)
Also known as: RWGS NGS
Use
Rapid Whole Genome Sequencing (rWGS) is intended for acute clinical scenarios, especially for probands with suspected genetic conditions, where rapid diagnosis is critical. It enables detection of sequence variants, copy number variants (CNVs), mitochondrial genome variants, and SMN1 deletions, supporting informed clinical management and genetic counseling.
Special Instructions
Not provided.
Limitations
This short‑read assay does not detect CNVs between 50 bp and 1 kb, high copy‑number CNVs, balanced structural variants (translocations, inversions, insertions), SMA carrier status, mitochondrial indels and CNVs, variants in the D‑loop, triplet repeat expansions, gene conversion, variants in high homology or low coverage regions. Interpretation may be impacted by lack of parental data or misattributed parentage. A negative result doesn’t exclude a genetic cause. Variants in regions not interrogated by short‑read sequencing may be missed.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
0.5 mL
Collection Instructions
Preferred: whole blood in lavender (EDTA) or pink (EDTA). Transport 2 mL whole blood (Min: 0.5 mL).
Storage Instructions
Refrigerated.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant