Epic Code LAB1230862 POLE Gene Mutation Analysis
Interface Order Alias
1230862
Clinical Information
Tissue sections were examined by a pathologist to scribe relevant tumor. Next generation sequencing (NGS) was performed to detect exonuclease domain (residues 268-471) mutations (EDM) of the POLE gene using Ion Torrent AmpliSeq technology. The presence of POLE EDM defines a clinically significant molecular subgroup of endometrial carcinoma with favorable prognosis. The lower limit of detection of this assay is 3-5% allele frequency.
Ordering Instructions
Place specimen in 10% Formalin and order Tissue Pathology in addition to POLE Gene Mutation Analysis order.
Collection Instructions
Specimen Collection: Paraffin Block
Container(s): Formulin
Collection Instructions:
- Place specimen in 10% Formalin and order Tissue Pathology in addition to POLE Gene Mutation Analysis order.
Processed Specimen
- Tissue Path/FFPE
Rejection Criteria
N/A Test cases selected by Pathologists
Specimen Stability
FFPE - Ambient
Test Frequency
Typical TAT is 7 days - run once per week
Reference Range
Normal = Not Detected
Abnormal = Detected
Performing Department
Molecular Diagnostics
Performing Department Laboratory Location
Corewell Health Advanced Technology Laboratory (ATL), Grand Rapids, MI
Methodology
Ion Torrent AmpliSeq Technology
CPT
81479
CDM Code
3008147910
Epic Test ID
1230102540
LOINC
In Process
Reviewed Date
6/22/2023