Please see the National Genomic Test Directory for eligibility criteria and select the appropriate test.
• R430 – direct germline testing for patients who are eligible for panel testing based on personal or family history.
• R444 – for patients being assessed for PARP inhibitor eligibility, where somatic testing has failed.
• R240 – for patients whose somatic test showed a gene variant. This test confirms whether the variant is present in the germline.
Step by step instructions
Test code
R430, R444.2 and R240 – inherited prostate cancer and PARP inhibitor treatment for prostate cancer
Eligibility
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.
Consent
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.
Please use the generic consent form:
Mainstreaming Consent form for Inherited Cancer V1.3
Prostate (R444.2) PIS V1.2 TRUST LOGO
Prostate (R444.2) PIS V1.2 GLH LOGO
Printing Tips for Patient Information Sheets
- Print in landscape.
- Print on both sides.
- Flip on short edge.
Test order form
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
Samples and transport
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.
For a full list of sample requirements and transport guidance, please visit the samples and transport page of the website.
Results and turnaround times
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.
Important contact information
Once results are received, please see your local mainstreaming guidance for information on management and Clinical Genetics involvement. If you need advice, contact your local Clinical Genetics service:
rduh.pcgreferrals@nhs.net (or via the Epic system if you are based at the Royal Devon University Healthcare NHS Foundation Trust)