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
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
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.
Consent forms are available online at www.aruplab.com.
Laboratory Developed Test (LDT)
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.
|Component Test Code*||Component Chart Name||LOINC|
|2006337||Exome Sequencing Specimen, Patient|
|2006338||Exome Sequencing Interpretation, Patient|
- Exome Sequencing, Patient only