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POLE exons 9, 13 and 14 mutational analysis by Sanger sequencing for endometrial carcinomas

Test Code:

HT0209

Synonym(s):

 

Specimen Container

Specimen Requirement

1. Formalin-Fixed Paraffin-Embedded block or
2. 10x unstained sections and 1 corresponding H&E slide.

Tissue must be non-necrotic, non-cauterised, and must not have undergone acid-based decalcification. Improper storage conditions may additionally compromise nucleic acid integrity.

Specimen Storage / Transport

Method

 

Orderable as STAT?

No

Turn Around Time

7 working days

Reference Value(s)

Testing Laboratory Location

KKH

Laboratory

Molecular Histopathology

Contact Number

6394 1402

Day and Time Performed

Mon – Fri: 0800 hrs– 1700 hrs

Orderable on CPOE?

No

Downtime Form

Additional Information

Background:
Endometrial carcinomas can be stratified into four prognostic groups based on molecular features. The “ultramutated” group harbours POLE exonuclease domain mutations (EDM) and is associated with favourable progression-free survival even though histological grade is often high.

Purpose of test:
The test identifies mutations affecting exons 9, 13 and 14 of the POLE gene.

Specimen requirements:
10 unstained sections of tumour and a corresponding H&E-stained histological section, OR a paraffin block of tumour.

Turnaround time:
5 working days. Caveats: DNA integrity and concentration must meet assay requirements. Low tumour content (<20%) may result in an inaccurate result.

Proficiency testing:
Internal quality assurance programme.

Reference:
Wong A et al. Mutation spectrum of POLE and POLD1 mutations in South East Asian women

Change History Notes

Others

Keywords

POLE exons 9, 13 and 14 mutational analysis by Sanger sequencing for endometrial carcinomas HT0209
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