Ordering Recommendation

Preferred test to determine etiology of a patient’s symptoms if Mendelian genetic condition is suspected. Parental control specimens are encouraged 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

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

Lavender 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 EXOME FRPT (ARUP test code 3016589) for parental specimen requirements. Two parental controls are recommended for EXOME PRO. Controls should be ordered using EXOME FRPT (ARUP test code 3016589) and submitted within 7 days of the proband's sample.

New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York-approved laboratory.

Specimen Preparation

Transport 2mL whole blood (Min 1.0mL)
Refer to EXOME FRPT (ARUP test code 3016589) for parental specimen requirements.

Storage/Transport Temperature

Refrigerated.
Refer to EXOME FRPT (ARUP test code 3016589) for parental specimen requirements.

Unacceptable Conditions
Remarks
Stability

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

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

21-28 days

Reference Interval

N/A

Interpretive Data

Refer to report.

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

81415: per familial comparator, 81416 is added

Components

Component Test Code* Component Chart Name LOINC
3016584 EXOME PRO Int 86205-2
* 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

  • exome sequencing patient only
  • WES
  • whole exome analysis
Exome Sequencing