For Patients and Public:
What genetic testing can I get on the NHS and how do I get testing on the NHS?
Genetic testing is available on the NHS for people who are suspected of having a rare condition or who are known to be at risk. There are other types of genetic testing also available such as testing tumour DNA to indicate best course of therapy. To access genetic testing patients will need a referral from an NHS clinical professional to clinical genetics or other relevant specialty. The clinical team will assess if genetic testing is appropriate and discuss the options with their patients.
Does the UKGTN online database list all genetic tests that all NHS laboratories offer?
No, the UKGTN online database only lists tests for rare inherited conditions and only the tests that have been approved through the evaluation process that recommends new tests for NHS service. It also only lists tests offered by the UKGTN membership of laboratories. There may be some laboratories in the NHS that are offering genetic testing but because they are not members their testing services will not be listed.
How do I find out if a genetic test is available for a specific condition?
You can search the UKGTN online database from the Home page of the UKGTN website. Enter the name of the condition and tests that are available will be listed. To access further information about the test click on the blue name of the test and this will take you to a screen showing the laboratories that offer the test. In many cases the name of the test may not necessarily be the name of the condition you have searched for. This is because a lot of tests now analyse a large number of genes for various disorders in a single test. You can see all the disorders that each test is for by clicking on the test name. If you cannot find a test for the condition that you interested in it may be worth calling your local Regional Genetics Centre (phone numbers are available from the Genetic Alliance UK website to ask if they know of any organisation that might provide testing.
I want to have a genetic test done privately – how do I arrange this and where can I get testing?
We cannot advise on private genetic testing. The UKGTN is an NHS organisation and only has information about NHS services. The Human Genetics Commission published a document on Principles for Direct-to-Consumer genetic testing services that has a lot of useful information when considering private testing and is available from here.
I am overseas but would like to have genetic testing in the UK – how do I arrange this?
A clinical professional in your country would need to contact a UKGTN laboratory directly to discuss arrangements for overseas referrals including price and requirements for sending a sample.
Why doesn’t the UKGTN website list patient support groups?
The aim of the UKGTN is to advise the NHS on the availability of genetic testing for rare inherited conditions. It is not an information resource for all rare conditions of which there are over 6000. There are other organisations that provide information on patient support groups for rare conditions such as Genetic Alliance UK, UNIQUE and Contact a Family (all links are available from our useful links).
Why doesn’t every test listed on the UKGTN database have a Gene Dossier?
The UKGTN was established in 2002 with the first wave of laboratory members approved in 2003. The UKGTN evaluation process was introduced in 2004 and therefore only tests introduced from 2005 will have gene dossiers.
Why do some tests have Testing Criteria but no Gene Dossier?
Tests that were available before the development of the UKGTN test evaluation process will not have a Gene Dossier but may have Testing Criteria that have been developed following a request from a professional group or by laboratories collaborating to produce criteria for these established services.
Why doesn’t every test have Testing Criteria?
The concept of Testing Criteria was introduced in 2006 and therefore all tests approved prior to this time will be unlikely to have Testing Criteria. In some cases Testing Criteria has been developed for tests that were available before 2006 through consensus expert opinion or through a workshop approach - please see Resources > UKGTN Reports > Testing Criteria Development.
Can I send patient samples and/or arrange testing through contacting the UKGTN administrative office?
No the UKGTN office does not process samples for the Network of laboratories and does not arrange or follow up on clinical referrals. Clinicians that want to send a patient sample to a laboratory for testing will need to contact the laboratory directly. Clinicians that have any queries about patient referrals to clinical genetics will need to contact the Regional Genetics Centre directly to ask about referring patients for appointments.
How can I apply for my laboratory to become a UKGTN member?
All information about the application process and the forms that need to be completed are available on the UKGTN website by clicking on resources > Laboratory Membership > Applying to become a UKGTN member