SWGLH Inherited Cancer Testing Services

The South West Genomic Laboratory Hub (SWGLH) provides hereditary cancer services for the South West of England. While all cancer results from an accumulation of genetic defects, only a small proportion of cancer has a hereditary cause. Working with clinical genetics and the National Genomics Test Directory the laboratory provides a range of genomics tests for patients suspected of having a hereditary cancer. Identifying a hereditary cause of cancer not only informs the patient’s treatment and management but enables predictive testing to be offered to relatives of the patient who may be at an increased risk. A range of technologies including Next Generation Sequencing (NGS), Sanger sequencing and MLPA are utilised to deliver these services. For these services, a germline DNA sample (normally extracted from a blood sample) is tested.

Core cancer services include the following investigations:

R207 Inherited ovarian cancer (without breast cancer)

R208 Inherited breast cancer and ovarian cancer

R210 Inherited MMR deficiency (Lynch syndrome)

R211 Inherited polyposis and early onset colorectal cancer - germline test

R430 Inherited prostate cancer

Some hereditary cancer services are provided within the ‘Inherited Cancer Specialist Service Group’ and are delivered by a designated GLH on behalf of the SWGLH.

Core cancer services include the following investigations:

Blood samples (EDTA) should be kept at room temperature or at 4oC and not be frozen before dispatch. They should be sent to the SWGLH to arrive within 1-3 days of sample collection.  

Analysis of tumour DNA as a prognostic indicator or to determine if a patient is eligible for treatment with therapeutic drugs is within the remit of the Solid Tumours section of the SWGLH. Refer to this section for further details: https://www.nbt.nhs.uk/south-west-genomic-laboratory-hub/swglh-sample-test-information/swglh-requesting-a-genomic-test-adult-solid-tumours-neurological-tumours-sarcoma-paediatric-cancer

Eligibility criteria are specified by NHS England: https://www.england.nhs.uk/wp-content/uploads/2018/08/Rare-and-inherited-disease-eligibility-criteria-version-5.2.pdf


R208 Inherited breast cancer and ovarian cancer Testing Documents

Mainstreaming R208 Consent Form - below this the link to download the form.


R208 Inherited breast cancer Patient Information Leaflets:


-  Patient information leaflet with the option to add your own Trust logo



Page updated: 18/01/2024