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POLE Full Exons 9, 13 and 14 Mutational Analysis (Sanger Sequencing)

Test Code:

XXXXX

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

​Endometrial carcinoma is the most common gynaecological cancer diagnosed in the developed world.

The Cancer Genome Atlas (TCGA) project recently stratified endometrial carcinomas into four prognostic groups based on genomic features. A novel subgroup, termed the “ultramutated”, harbours POLE exonuclease domain mutations and was found to be associated with markedly favourable progression-free survival.
 
Our exon 9, 13 & 14 full exon sequencing panel is designed to identify the pathogenic mutations in the exonuclease domain of POLE which are associated with improved clinical outcomes.
 
Expected Results:
The results will be reported by exon in a table. We report any coding mutation, the resulting amino acid change, and the Cosmic ID of the mutation. In the event no mutations are detected, we will report “No mutation seen”.
 
Quality Assurance: Internal Quality Assurance (KKH DPLM)
 
POLE Full Exons 9, 13 and 14 Mutational Analysis (Sanger Sequencing) HT0201
 

Change History Notes

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Keywords

POLE Full Exons 9, 13 and 14 Mutational Analysis (Sanger Sequencing)
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