Skip Ribbon Commands
Skip to main content
Menu

Targeted genomic profiling of solid tumours by AmpliSeq Childhood Cancer Panel

Test Code:

HT0215

Synonym(s):

Specimen Container

Specimen Requirement

20 unstained sections of tumour and a corresponding H&E-stained histological section, OR

1 paraffin block of tumour

Specimen Storage / Transport

Method

 

Orderable as STAT?

No

Turn Around Time

The test is batched with a turnaround time of 4 - 6 weeks

Reference Value(s)

Testing Laboratory Location

​KKH

Laboratory

Molecular Pathology

Contact Number

6394 1402

Day and Time Performed

Mon – Fri: 0800 hrs– 1700 hrs

Orderable on CPOE?

No

Downtime Form

Additional Information

Consent form
Somatic Genetic Testing (Cancer Genetics)

Background
Cancers harbour gene mutations. Precision medicine seeks to identify mutations to improve diagnostic accuracy, prognostication and identification of mutations that may be targeted by drugs to improve the treatment outcome.

Purpose of test
The AmpliSeq Childhood Cancer Panel is a next-generation sequencing test that uses high-throughput amplicon sequencing for the identification of somatic single nucleotide variants (SNVs), copy number variants (CNVs) and gene fusions in genes commonly affected in childhood and childhood-type solid tumours.

Gene list
(Refer to test form)


Consent

Signed informed consent is required.


Caveats
Tumour content must be >50%. DNA and RNA quality and concentrations must meet assay requirements.

The DNA assay component does not detect variants occurring at allele frequency of less than 10%, exon deletions, and variants in regions for which sequencing coverage is less than 100x. The RNA assay component detects 1706 specific gene fusion variants only (available on request). The test does not detect splice variants, variants located in regions with pseudogene interference and variant types not included in validation.

This test is validated for somatic variants only. Variants identified may include germline variants even though these are not specifically tested for. For this reason, a suitably-qualified physician must be responsible for obtaining signed informed consent, appropriately counselling the patient on the nature of the test, and interpreting and explaining test results to the patient with appropriate clinico-pathological correlation.



Proficiency testing
College of American Pathologists proficiency testing programme.


Reference 
Hiemenz MC et al, A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. J Mol Diagn 2018, 20: 765e776

Change History Notes

Others

Keywords

Targeted genomic profiling of solid tumours by Ampliseq Childhood Cancer Panel (informed consent required) HT0215
TOP

What's New

Sort by :