Whole Genome Sequencing
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.
Massively Parallel Sequencing
New York DOH Approval Status
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.
Transport 2 mL whole blood. (Min: 1.0 mL) Refer to Whole Genome Sequencing, Familial Control (ARUP test code 3016497) for parental specimen requirements.
Refrigerated. Refer to Whole Genome Sequencing, Familial Control (ARUP test code 3016497) for parental specimen requirements.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Laboratory Developed Test (LDT)
The ability to identify causative variant(s) for the patient's presentation is strongly influenced by the quality of the clinical information provided.
81425; per familial comparator, 81426 is added
|Component Test Code*||Component Chart Name||LOINC|
|3016494||WGS NGS Int||86206-0|
- Genome Sequencing
- Whole Genome Analysis