Exome Sequencing, Familial Control

2006340
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Example Reports
Control
Negative
Positive

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Family Member Control History for Exome Sequencing

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Informed Consent for Exome Sequencing

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Additional Technical Information

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

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.

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



Compliance Category

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

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Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
11/18/2019
X
X
X
X
X
X
N/A

CPT Codes

N/A

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Components

Component Test Code* Component Chart Name LOINC
2006341 Exome 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
Exome Sequencing, Familial Control