ctDNA testing

The use of ctDNA (circulating tumour DNA analysis) in the cancer diagnostic and treatment pathway is now standard of care for some tumour types, including:

• Lung Cancer – stage 3 and 4 disease
• Breast cancer – genomic testing for ESR1 variants to determine suitability for Elacestrant

Eligible tumours and the available tests are shown in the National Genomic Test Directory for Cancer (NGTD)

The ctDNA service for the SW is provided by the Royal Marsden.

To request a ctDNA test, please e-mail Marsden360@rmh.nhs.uk for a Test Order Form.

For further information about the service, please visit the Royal Marsden website.

For guidance on how to request a ctDNA testing kit, please read this document: ctDNA RUO Kit Ordering Information August 25

An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place before testing is requested.

It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic testing. In submitting a sample with a request form, the clinician confirms that informed consent has been obtained for (a) testing and storage (indefinitely) (b) the use of this sample and the information generated from it to be shared with members of the donor’s family and their health professionals (if appropriate). The patient should be advised that the samples may be used anonymously for quality assurance and training purposes.

If stated as a requirement for a specific test, a record of this discussion must be retained within the patient record when a genomic test is ordered.

For more information please view the Consent and Confidentiality in Genomic Medicine guidelines from the Joint Committee on Medical Genetics.

Before sending samples for genomic testing, please ensure you follow the correct preparation and transport guidelines. This includes information on sample types, volumes, handling, labelling, and packaging standards.

ctDNA samples should be shipped directly to the Royal Marsden at  Clinical Genomics,  The Centre for Molecular Pathology,  The Royal Marsden NHS Foundation Trust, Cotswold Road, Sutton, Surrey, SM2 5PT.

For a full list of sample requirements and transport guidance, please visit the samples and transport page of the website. 

Turnaround times (TATs) for genomic tests are continually refined through ongoing reviews of testing standards.

Results will be returned to the email account or clinician listed on the request form.