Types of genomic test | Sarcoma UK
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Types of genomic test

There are different types of genomic tests that can be used to help doctors to learn more about a condition.

Each of these tests can be performed at various stages in your diagnosis or treatment of sarcoma. Below, we explain some of the differences between the main types of tests that are used for sarcoma.


Whole genome sequencing

Whole genome sequencing (WGS) is a genomic test that looks at your whole genome.

The main aim of WGS is to provide more information about your diagnosis or to guide decisions around treatment. It might help you and your healthcare professional to understand:

  • Why you developed the sarcoma
  • The type of sarcoma you have and how it might behave
  • Which treatments may be most effective for your type of sarcoma
  • If you are at risk of developing other cancers in the future
  • Whether your family members may be at a higher risk of developing cancer.

The test focuses on changes in genes related to cancer. It is not looking for changes in genes that cause other conditions.

WGS is routinely commissioned on the NHS in England, meaning if you are eligible, your clinical team will discuss this with you, to determine whether or not WGS is suitable. You can read more about WGS at the NHS Genomic Medicine Service website.

Results from your WGS test can take up to 12 months, though privately results can be available sooner. Turnaround times can vary depending on where you are based, and may also be subject to change in the future.


Panel testing

A panel test is a type of genomic test that looks at a specific set of genes. Scientists know that the specific set of genes chosen are linked to a condition or certain symptoms.

It can be time consuming using whole genome sequencing to find a gene variant responsible for your sarcoma. Panel testing can be useful because certain known gene variants are associated with sarcoma. These genes are good places to start looking for variants that have caused the sarcoma.

For instance, a patient with a heart condition will be tested using a cardiac panel. Someone with a suspected neurological condition will be tested with a neurological panel.

A panel can range in size from as little as 5 genes to over 100 genes.


FISH testing

FISH (fluorescent in situ hybridisation) tests are specialised genetic tests used to detect any abnormalities within genes.

It can be used to diagnose specific subtypes of sarcoma. For example, it can identify if there are multiple copies (amplifications) of the MDM2 gene, which are often seen in dedifferentiated liposarcoma.

Once your healthcare professional can identify your subtype of sarcoma, they can help to ensure you undergo the best treatment for you.

Part 3
How whole genome sequencing works



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