Referring people with Parkinson’s for genetic testing

This resource offers information for doctors and clinical geneticists on NHS genetic testing pathways for Parkinson's in the UK. It details current genetic testing landscapes, including referral criteria, available NHS tests, and patient resources, aiming to support informed clinical practice and patient guidance in this evolving area of Parkinson's care.

People with Parkinson’s are encouraged to read our information on whether Parkinson's runs in families.

England and Wales

Neurologists, psychiatrists and clinical geneticists in England and Wales can request genetic testing for people who have a Parkinson’s diagnosis before the age of 50, or have a first degree relative diagnosed before the age of 50, as outlined in the National Genomic Test Directory Testing Criteria for Rare and Inherited Disease. Testing is also available for people with Parkinson’s with complex features, as outlined in the Directory. 

Download the National Genomic Test Directory Testing Criteria on the NHS website.

NHS England National Genomics Education Programme provides a series of training resources called ‘In the Clinic', which present short scenarios looking at when to consider genomic testing and what you need to do.

One example scenario is provided for suspected young-onset Parkinson’s disease.

Go to the In the Clinic resource on the Genomics Education website.

NHS England produces a patient-facing document you can share with your patients and their families. It outlines what patients can expect through the process of testing and waiting for results. It also outlines a patients’ rights with regards to data protection and insurance, as well as how genetic data can be used for research purposes. 

Download whole genome sequencing for a rare disease from the NHS website.

In Wales referrals are processed through the All Wales Medical Genomics Service, Cardiff.

Visit the All Wales Medical Genomic Service website.

Scotland

Clinical geneticists and neurologists can order genetic testing for people with Parkinson’s disease where the age of onset is under 50, or for people who have a first degree relative who had early onset Parkinson’s. People with complex features of Parkinson’s may also be referred for genetic testing.

View the Scottish Genomic Test Directory for Rare and Inherited Disease on the NHS Scotland website.

Northern Ireland

As in England, doctors in the following specialities can refer people with Parkinson’s for genetic testing: Clinical Genetics, Neurology, Psychiatry.

The Regional Molecular Diagnostics Service (RMDS) based in Belfast have aligned testing and patient eligibility to NHS England’s National Genomics Test Directory where possible (see above).

Belfast Health and Social Care Trust has provided the following information on its genetic testing pathway, who can benefit from it and who provides it on its website.

Go to information on the Clinical Genetics Service website.

Research

Patients can also access genetic testing by taking part in research studies that involve genetic testing. Some of the current studies that are recruiting include: 

• PD Frontline: identifying people with GBA1 and LRRK2 differences (open to all people with Parkinson’s to take part).
• Parkinson’s Families project (open to people with a family history or early onset Parkinson’s or a Parkinson’s related condition to take part).