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Exome Sequencing, Familial Control
Ordering Recommendation
Use to submit parental/familial control samples for Exome Sequencing (3016583). If reporting of secondary findings, including pathogenic variants in the American College of Medical Genetics recommended genes, for parental samples is desired, indicate opt-in status on the Exome Sequencing Intake Form (additional charges apply).
New York DOH Approval Status
Specimen Required
Lavender or pink (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
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
This test is used for parental control samples associated with a proband sample submitted for EXOME PRO. If a report for a parental control sample is desired, indicate opt-in status for ACMG secondary findings on the exome sequencing intake form (additional charges apply).
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
21-28 days
Reference Interval
N/A
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Parental samples are used to aid in interpretation of the proband's exome sequencing data. Please indicate on the exome sequencing intake form if a report of American College of Medical Genetics and Genomics (ACMG) secondary findings is desired for submitted parental controls (additional charges apply). Please list the name/DOB for parental controls on the exome sequencing intake form.
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
