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.
- 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
Consent forms are available online at www.aruplab.com.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2006337||Exome Sequencing Specimen, Patient|
|2006338||Exome Sequencing Interpretation, Patient|
- Exome Sequencing, Patient only