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Rapid Whole Genome Sequencing
Ordering Recommendation
Preferred test to determine the etiology of a patient’s symptoms if a Mendelian genetic condition is suspected in cases of acute clinical presentation. Parental control specimens are required for this test; order Rapid Whole Genome Sequencing, Familial Control (3005928) or Rapid Whole Genome Sequencing, Familial Control with Report (3005933). Submission of a completed Rapid Whole 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
Lavender or pink (EDTA). Peripheral blood required. Contact ARUP's genetic counselor at 800-242-2787 ext. 2141 prior to test submission.
Refer to Rapid Whole Genome Sequencing, Familial Control (ARUP test code 3005928) or Rapid Whole Genome Sequencing, Familial Control with Report (ARUP test code 3005933) for parental specimen requirements. Rapid Whole Genome Sequencing requires two parental controls ordered using either of the test codes above. Testing will not be approved if 3 specimens (proband, 2 parental controls) are not received with associated orders.
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)
Refer to Rapid Whole Genome Sequencing, Familial Control (ARUP test code 3005928) or Rapid Whole Genome Sequencing, Familial Control with Report (ARUP test code 3005933) for parental specimen requirements.
Refrigerated.
Refer to Rapid Whole Genome Sequencing, Familial Control (ARUP test code 3005928) or Rapid Whole Genome Sequencing, Familial Control with Report (ARUP test code 3005933) for parental specimen requirements.
Testing will not be approved if 3 total specimens (proband, 2 parental controls) are not received with associated orders.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
5-7 days
Reference Interval
By report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
This test is not orderable on proband only. Familial (parental) controls are required for analysis.
The ability to identify causative variant(s) for the patient's presentation is strongly influenced by the quality of the clinical information required.
Hotline History
Hotline History
CPT Codes
81425; per familial comparator, 81426 is added
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3005936 | RWGS NGS Int | 86206-0 |
Aliases
- genome sequencing, rapid genome
- NICU rapid genetic diagnosis
- whole genome analysis
