R210 Inherited MMR deficiency (Lynch Syndrome)

Lynch syndrome (hereditary non-polyposis colorectal cancer (HNPCC)) is an autosomal dominant, inherited cancer predisposition syndrome that causes individuals to have a high lifetime risk of colorectal cancer.

Learn more on the Genomics Education Programme website

R210 Inherited MMR deficiency (Lynch Syndrome)

Visit the NHS Genomic Test Directory 

Eligibility criteria for genomic tests can be found in the National Genomic Test Directory.

This lists the clinical specialties that would be expected to request for a given clinical indication and sets out which patients should be considered for testing.

Germline genetic tests have implications for future and family health. Patients should be informed of the implications and be appropriately consented, using a tool such as the Mainstreaming Consent Form to document in the patient record. The below patient information leaflet can be used with or without local trust logo to support patient information giving.

Lynch Syndrome (R210) Patient Information Leaflet V1 GLH LOGO

Lynch Syndrome (R210) Patient Information Leaflet V1 TRUST LOGO

Mainstreaming Consent form for Inherited Cancer V1.3

Printing Tips for Patient Information Sheets

• Print in landscape
• Print on both sides
• Flip on short edge

All samples for genomic testing should be accompanied by a fully completed request form.

The request form should include as much clinical information about the patient or family member, family relationships and the requested test code (R number). All request forms must indicate either a specific disorder/gene(s) to be investigated or, a request to extract and store DNA.

This form should be used for the majority of test requests.

Please do not download and store this on your desktop or system. The form is regularly updated. Our recommendation is to save or bookmark a link to our website to ensure you are working with the most up-do-date version.

Download the latest version here: GMS Test Order Form v2.3

Blood samples in EDTA tubes (2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates) are required for these tests. Samples should be kept at room temperature or at 4oC and not be frozen before dispatch.

Please ensure all sample tubes are labelled and accompanied by the test request form

Complete the SWGLH Genomic Test Request form, including:

• The test required.
• Patient diagnosis (confirming eligibility).
• Any relevant family history.
• Who the result should be returned to – a shared results email account for your team is recommended.

Send the completed form with samples: GMS Test Order Form v2.3

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.

Visit the results and turnaround page for more information.

To get in touch, please email:

rduh.pcgreferrals@nhs.net (or via the Epic system if you are based at the Royal Devon University Healthcare NHS Foundation Trust)

UHBWClinicalGenetics@uhbw.nhs.uk