Feedback
Exome Sequencing, Familial Control
2006340
Ordering Recommendation
Mnemonic
TRACKEXADD
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
4-8 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
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. 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
A completed exome consent form and patient history form is required on each parent or family member submitting a control sample. 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data


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
N/A
Components
Component Test Code*Component Chart NameLOINC
2006341Exome Sequencing, Familial Control
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • familial exome control
  • Parental exome control