Ordering Recommendation

Preferred test to determine the etiology of a patient’s symptoms if a Mendelian genetic condition is suspected. Parental control specimens are recommended for this test; order Whole Genome Sequencing, Familial Control (3016497). Submission of a completed 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.

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 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 pink (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 Whole Genome Sequencing, Familial Control (ARUP test code 3016497) for parental specimen requirements. Two parental controls are recommended for optimal whole genome analysis.
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: 1.0 mL) Refer to Whole Genome Sequencing, Familial Control (ARUP test code 3016497) for parental specimen requirements.

Storage/Transport Temperature

Refrigerated. Refer to Whole Genome Sequencing, Familial Control (ARUP test code 3016497) for parental specimen requirements.

Unacceptable Conditions
Remarks
Stability

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

Reference Interval

Interpretive Data



Compliance Category

Laboratory Developed Test (LDT)

Note

The ability to identify causative variant(s) for the patient's presentation is strongly influenced by the quality of the clinical information provided.

Hotline History

N/A

CPT Codes

81425; per familial comparator, 81426 is added

Components

Component Test Code* Component Chart Name LOINC
3016494 WGS 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
  • WGS
  • Whole Genome Analysis
Whole Genome Sequencing