Ordering Recommendation

Preferred test to determine etiology of a patient’s symptoms if Mendelian genetic condition is suspected. Parental control specimens are required for this test; order Exome Sequencing, Familial Control (2006340). Submission of a completed patient history form and consent form is required for the patient and each parental or family member’s sample (see Submit with Order below).

Mnemonic
EXOME SEQ
Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

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
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: 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.

Note

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. Control samples submitted without a separate signed exome sequencing consent form will not receive a clinical report of their ACMG secondary findings or other actionable secondary variants.

Hotline History
N/A
CPT Codes

81415; 81416 x2

Components
Component Test Code* Component Chart Name LOINC
2006333 Exome Specimen
2006334 Exome 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
Exome Sequencing, Trio