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
