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Gene fusion detection in paediatric tumours and sarcomas by NanoString nCounter technology

Test Code:

HT0210

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:
A proportion of paediatric solid tumours and sarcomas have gene fusions. Identification of specific gene fusions are important for diagnosis and may provide prognostic and predictive information.

Purpose of test:
This test identifies any of 174 specific gene fusions known to be present in paediatric solid tumours and sarcomas using NanoString nCounter technology. This test does not identify gene fusions other than these 174 specific gene fusions.

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

Turnaround time:
The test is batched and performed every fortnight. The test itself takes 3 working days to complete.

Caveats:
RNA integrity and concentration must meet assay requirements. Low tumour content may result in an inaccurate result. The specific gene fusion present needs to be expressed at high levels.

Proficiency testing:
Exchange with an overseas centre performing the same test.

Reference:
Chang KTE et al. Development and evaluation of a pan-sarcoma fusion gene detection assay using the NanoString nCounter platform. J Mol Diagn 2018; 20: 63-77.

Change History Notes

Others

Keywords

Gene fusion detection in paediatric tumours and sarcomas by NanoString nCounter technology HT0210
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