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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