POLE hotspots mutational analysis for endometrial carcinomas (Sanger Sequencing)

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.
Orderable as Urgent?	No
Turn Around Time	7 working days
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	Molecular Pathology
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 hotspot sequencing panel is designed to identify the 11 pathogenic mutations in the exonuclease domain of POLE which are associated with improved clinical outcomes. Quality Assurance: Internal quality assurance programme. (KKH DPLM)