Whole Exome Sequencing - TRIO (Proband)

Whole Exome Sequencing - TRIO

CPT: 81415; 81416(x2)
Updated on 11/4/2019
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Special Instructions

This assay is not currently available in New York state.

Samples must be accompanied by both a consent form and clinical questionnaire and/or supporting clinical documents or they will not be processed.


Expected Turnaround Time

2 - 4 weeks


Related Documents


Specimen Requirements


Specimen

Whole blood


Volume

4 mL


Container

Lavender-top (EDTA) tube


Storage Instructions

Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.


Causes for Rejection

Frozen blood EDTA tube


Test Details


Use

Whole Exome Sequencing (WES) is a genetic test used to identify a heritable cause of a disorder. WES searches through all coding regions of all genes currently identified; thus, it has a higher chance to find the cause of a heritable disease. WES can be used if a patient has symptoms, which, after exhaustive testing, cannot be linked to a diagnosis and corrective treatment is necessary to change the prognosis. WES can also be used if, upon clinical presentation, multiple disease states may be suspected and a clinician wishes to improve his/her testing approach. Once a genetic variant has been identified, this information can then be linked back to the phenotype of the patient, which will improve the pathway to a correct diagnosis and a suitable treatment plan can be administered. TRIO testing consists of a proband or patient sample, and both biological parents. In the case both parents are not available for testing, up to two family member samples are also accepted. Trios are preferred for better diagnostic sensitivity.


Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Whole Exome Sequencing


LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
620022 Whole Exome Sequencing - TRIO 230163 Specimen Status N/A
620022 Whole Exome Sequencing - TRIO 620181 Preauthorization N/A
620022 Whole Exome Sequencing - TRIO 620018 WES Primary Result 86206-0
620022 Whole Exome Sequencing - TRIO 620019 WES Secondary Result Pending
620022 Whole Exome Sequencing - TRIO 620020 WES Interpretation Pending
620022 Whole Exome Sequencing - TRIO 620033 WES Footnotes Pending

For Providers

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