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Exome Sequencing, Familial Control
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Ordering Recommendation
Submission of parental control samples is required for Exome Sequencing, Trio testing. A completed “Family Member Control History for Exome Sequencing” form and completed “Informed Consent for Exome sequencing” form must be submitted for each parental/relative’s sample to aid in result interpretation for the proband’s exome and to allow for reporting of secondary findings on parents or other relatives serving as controls.
Mnemonic
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
4 weeks
New York DOH Approval Status
Specimen Required
Lavender (K2EDTA) 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.
Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
A completed exome consent form and patient history form is required on each parent or family member submitting a control sample.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Laboratory Developed Test (LDT)
Note
Up to four family members may serve as exome sequencing controls for a proband having Exome Sequencing, Trio (2006332). Family members samples are used to aid in interpretation of the proband's exome sequencing data. Secondary findings, including pathogenic variants in genes recommended for analysis by the American College of Medical Genetics (ACMG) and other actionable secondary variants will only be reported for control individuals who complete a separate Exome Sequencing consent form. ACMG genes are only analyzed to the extent that routine exome analysis allows and single disease-causing variants in autosomal recessive ACMG genes are not reported.
Hotline History
CPT Codes
N/A
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2006341 | Exome Sequencing, Familial Control |
Aliases
- familial exome control
- Parental exome control
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