Connect Sign In
Exome Sequencing, Familial Control
Ordering Recommendation
Use to submit parental or other familial comparator samples associated with a proband sample for Exome Sequencing (3016583). Secondary findings, including pathogenic variants in the American College of Medical Genetics and Genomics (ACMG) recommended genes, will be reported unless opt-out is selected for the comparator on the proband’s Exome Sequencing Intake Form.
New York DOH Approval Status
Specimen Required
Whole blood in lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York-approved laboratory.
Transport 2 mL whole blood. (Min: 1.0 mL)
Refrigerated
Refer to Exome Sequencing (ARUP test code 3016583) for proband specimen requirements. This test is used for parental or other familial comparator samples associated with a proband sample submitted for Exome Sequencing (ARUP test code 3016583). Comparator samples must be submitted within 7 days of the proband’s sample. Please list the name/DOB of submitted familial comparators on the proband’s Exome Sequencing Intake Form.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
21-28 days
Reference Interval
Refer to report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Parental or other familial comparator samples are used to aid in interpretation of the proband's exome sequencing data. Contact ARUP's genetic counselors at 800-242-2787 ext. 2141 with questions about test submission.
Hotline History
Hotline History
CPT Codes
NA
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3016590 | EXOME FRPT Int | 86205-2 |
Aliases
- ACMG incidental findings
- ACMG secondary findings
- Familial exome control
- Parental exome control
- WES comparator
