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).
Massively Parallel Sequencing
New York DOH Approval Status
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.
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)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
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.
Laboratory Developed Test (LDT)
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.
81415; 81416 x2
|Component Test Code*||Component Chart Name||LOINC|
|2006334||Exome Sequencing Interpretation|
- Familial Next-Gen testing
- Symptom guided exome sequencing
- Targeted exome capture
- Whole-exome capture