Ordering Recommendation

Determine etiology of a patient’s symptoms if Mendelian genetic condition is suspected, and specimens from both parents are not available. Obtaining specimens from parents or family members significantly increases the chance of determining a cause for the patient’s condition. If familial control specimens are available, order Exome Control, Targeted Sequencing (3001114). There is no additional charge for this testing. 




Massively Parallel Sequencing




21-28 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

Lavender (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
AND Maternal Specimen: Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required
AND Paternal Specimen: Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required
New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York-approved laboratory.

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)
AND Maternal Specimen: Transport 3 mL whole blood. (Min: 1 mL)
AND Paternal Specimen: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature


Unacceptable Conditions

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

Reference Interval

By report

Interpretive Data

Refer to report.

Consent forms are available online at www.aruplab.com.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)


A completed Exome Sequencing consent form signed by the patient (or legal guardian) and a completed patient history form for exome testing are required for all specimens. It is strongly recommended that control samples be collected from both parents and any affected siblings and Exome Control, Targeted Sequencing (ARUP Test Code 3001114) ordered (at no additional charge) to aid interpretation of the patient's result. A separate patient history form should be completed for each control sample detailing their health history. For each parental or family member specimen, please indicate on the test requisition form that the sample is "control" and reference the patient's name.

Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
2006337 Exome Sequencing Specimen, Patient
2006338 Exome Sequencing Interpretation, Patient
* 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.


  • Exome Sequencing, Patient only
Exome Sequencing, Proband