3019943
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Genome Sequencing

WGS PRO

Ordering Recommendation

Whole genome sequencing (WGS) is the preferred test to establish a diagnosis when a genetic condition is suspected but the patient’s clinical features are not suggestive of a single disorder. Parental comparator specimens are recommended for this test; order Genome Sequencing, Familial Comparator (3019951). 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 Genome Sequencing, Familial Comparator (ARUP test code 3019951) for comparator specimen requirements.
Parental comparator samples are recommended 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

14-21 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 provided.
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

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Components

Component Test Code* Component Chart Name LOINC
3019944 WGS PRO Interp 86206-0
3020074 EER WGS 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

  • Genome Sequencing (GS)
  • WGS
  • Whole Genome Analysis
  • Whole Genome Sequencing (WGS)
Genome Sequencing