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Exome Sequencing Symptom-Guided Analysis
2006332
Ordering Recommendation
  • Preferred test to determine etiology of a patient’s symptoms if Mendelian genetic condition is suspected. 
  • Parental specimens are required to identify de novo variants and interpret patient results; order Exome Sequencing, Familial Control, Tracking 2006340. 
Mnemonic
EXOME SEQ
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
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
 
Collect
Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required. Contact ARUP's genetic counselor at (800) 242-2787 ext. 2141 if there are questions 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
Patient Specimen: 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
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report.
Interpretive Data
Refer to report.

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.

Note
A completed Exome Sequencing consent form, signed by the patient (or legal guardian), and a completed patient history form for exome testing is required for all specimens. Samples should also be collected from both parents and any affected siblings and Exome Sequencing, Familial Control (ARUP Test Code 2006340) ordered to aid interpretation of 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 a control and reference the patient's name.
CPT Code(s)
81415; 81416 x2
Components
Component Test Code*Component Chart NameLOINC
2006333Exome Specimen
2006334Exome Sequencing Interpretation
* 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
  • Familial Next-Gen testing
  • Symptom guided exome sequencing
  • Targeted exome capture
  • Whole-exome capture