What should you know about next generation sequencing platforms?

A platform is the laboratory system used to prepare a sample, read its genetic material, and turn the raw signal into a report. Depending on the test, the sample may be blood, saliva, or tumour tissue. The laboratory may examine a focused group of genes or a broader panel. The platform itself is not a diagnosis and does not decide which treatment you should receive.

Results can identify a genetic change, find no reportable change, or show a finding whose meaning is uncertain. A tumour finding may be different from an inherited finding, so the report needs clinical interpretation. Some tests also need enough suitable tissue or a repeat sample.

Ask what sample is needed, what genes or regions the test examines, and whether the purpose is tumour profiling, inherited-risk assessment, reproductive planning, or another question. Ask who will explain the report and whether genetic counselling is available when an inherited result is possible.

Bring a list of medicines, relevant family history, and previous pathology reports if requested. A result may guide a further test, a treatment discussion, or monitoring; it should be considered alongside your examination and other investigations. Learn more about [Next-Generation Sequencing](/technology/next-generation-sequencing/) and [Genomic Tumour Profiling](/treatments/diagnostics-and-staging/genomic-tumour-profiling/).

Contact the ordering team if the report is difficult to understand, a sample could not be tested, or a result is marked uncertain. Seek urgent medical care for new severe breathing difficulty, chest pain, confusion, or sudden weakness; these symptoms need assessment regardless of a sequencing result.

What question is this test intended to answer? Does the sample represent the tumour or my inherited DNA? Which findings could change treatment or prompt family testing? Will a negative or uncertain result change the next step?