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




4-8 weeks

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

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.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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


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