Rapid Genome Sequencing
Ordering Recommendation
Rapid whole genome sequencing (RWGS) is the preferred test to establish a diagnosis when a genetic condition is suspected in acute clinical scenarios. Parental comparator specimens are required for this test; order Rapid Genome Sequencing, Familial Comparator (3019953). Submission of a completed Genome Sequencing Intake Form is required for the proband.
To compare this test to other exome/genome testing options, refer to the ARUP Genome and Exome Sequencing table.
New York DOH Approval Status
Specimen Required
Preferred: Whole blood in lavender (EDTA) or pink (EDTA) Acceptable: Oragene(TM) saliva collection kit, or equivalent saliva collection device, collected in accordance with manufacturer instructions. Saliva in collection device suitable for human DNA extraction.
New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York-approved laboratory.
Transport 2 mL whole blood (Min: 0.5 mL) or 2 mL saliva.
Refrigerated.
Refer to Rapid Genome Sequencing, Familial Comparator (ARUP test code 3019953) for comparator specimen requirements.
Parental comparator samples are required for optimal whole genome analysis. Comparator samples must be submitted within 7 days of the proband's sample.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Qualitative Massively Parallel Sequencing
Performed
Varies
Reported
5-7 days
Reference Interval
Interpretive Data
Refer to report
Note
The ability to identify causative variant(s) for the patient's presentation is strongly influenced by the quality of the clinical information required.
Contact ARUP's genetic counselors at 800-242-2787 ext. 2141 with questions about test submission.
Hotline History
CPT Codes
81425; 81460; add 81426; 81460 per familial comparator
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3019948 | RWGS PRO Interp | 86206-0 |
| 3020075 | EER RWGS PRO | 11526-1 |
Aliases
- NICU rapid genetic diagnosis
- Rapid genome sequencing
- Rapid whole genome analysis
- Rapid whole genome sequencing (RWGS)
- RWGS
















