Rapid Whole Genome Sequencing

3005935
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Example Reports
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REQUIRED - Rapid Whole Genome Sequencing Intake Form

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Additional Technical Information

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Supplemental Resources

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.

Mnemonic

RWGS NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

5-7 days

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or yellow (ACD solution A or B). Peripheral blood required. Contact ARUP's genetic counselor at 800-242-2787 ext. 2141 prior to test submission
Refer to RWGS FAM (3005928) or RWGS FRPT (3005933) for parental specimen requirements.  RWGS NGS 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.

Specimen Preparation

Transport 2 mL whole blood. (Min: 0.5 mL)
Refer to RWGS FAM (3005928) or RWGS FRPT (3005933) for parental specimen requirements. 

Storage/Transport Temperature

Refrigerated.
Refer to RWGS FAM (3005928) or RWGS FRPT (3005933) for parental specimen requirements.

Unacceptable Conditions
Remarks

Testing will not be approved if 3 total specimens (proband, 2 parental controls) are not received with associated orders.

Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
02/27/2023
X
N/A

CPT Codes

81425; per familial comparator, 81426 is added

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Components

Component Test Code* Component Chart Name LOINC
3005936 RWGS NGS Int 86206-0
* 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

  • genome sequencing, rapid genome
  • NICU rapid genetic diagnosis
  • whole genome analysis
Rapid Whole Genome Sequencing