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Exome Sequencing
Ordering Recommendation
Preferred test to determine etiology of a patient’s symptoms if Mendelian genetic condition is suspected. Parental comparator specimens are recommended for this test; order Exome Sequencing, Familial Control (3016589). Submission of a completed Exome 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
Whole blood in lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York-approved laboratory.
Transport 2mL whole blood (Min 1.0mL).
Refrigerated.
Refer to Exome Sequencing, Familial Control (ARUP test code 3016589) for comparator specimen requirements. Parental comparator samples are recommended for optimal exome sequencing analysis. Comparator samples must be submitted within 7 days of the proband's sample.
Secondary findings are reported for the proband and comparators unless "opt out" is selected on the proband’s Genome Sequencing Intake Form.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
21-28 days
Reference Interval
Refer to report
Interpretive Data
Refer to report.
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.
Contact ARUP's genetic counselors at 800-242-2787 ext. 2141 with questions about test submission.
Hotline History
Hotline History
CPT Codes
81415: per familial comparator, 81416 is added
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3016584 | EXOME PRO Int | 86205-2 |
Aliases
- exome sequencing patient only
- WES
- whole exome analysis
