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

This test is not New York state approved. ARUP cannot facilitate testing for New York state clients. Please work directly with a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

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.

Specimen Preparation

Transport 2 mL whole blood (Min: 0.5 mL) or 2 mL saliva.

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks

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.

Stability

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

Compliance Category

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

N/A

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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • NICU rapid genetic diagnosis
  • Rapid genome sequencing
  • Rapid whole genome analysis
  • Rapid whole genome sequencing (RWGS)
  • RWGS
Rapid Genome Sequencing