Exome Sequencing Symptom-Guided Analysis, Patient Only
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 Genomics Patient Control (2007820). There is no additional charge for this testing. 

Massively Parallel Sequencing
12-16 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
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

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. 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 samples are also collected from both parents and any affected siblings and Genomics Control (ARUP Test Code 2007820) is ordered, at no additional charge, to aid interpretation of the patient's result. A separate patient history form should be completed for each control detailing their health history. For each parental or family member's specimen, please indicate on the test requisition form that the sample is "control" and reference the patient's name.
Component Test Code*Component Chart NameLOINC
2006337Exome Sequencing Specimen, Patient
2006338Exome 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