Tay-Sachs Carrier Screening

Carrier screening in the UK

Genetic carrier screening is a process of systematically offering a carrier test to a whole population (or sub-population) of healthy people, for a gene mutationA mutation refers to a structural change in a gene. It can be an alteration to a gene’s size, arrangement, or molecular sequence that is known to be common in that group.

In the UK, screening for Tay Sachs disease in the Ashkenazi Jewish population is NHS-funded.

Accessing carrier testing for Tay-Sachs disease

For individuals of Jewish origin, there are a number of ways in which Tay-Sachs carrier testing can be accessed on the NHS. The main service options are outlined below and further details for each can be found by clicking on the relevant links:

  • Barnet General Hospital, London – offer carrier testing on a Thursday mornings between 9am and 10am. The service is by appointment only and participants will need to be referred via their GP who must complete and send the Tay-Sachs referral form to North West Thames Regional Genetics Service for the Tay Sachs test. Participants will only be able to book to give a blood sample once they have seen a genetic counsellor.
  • In addition, wherever you live in the UK, you can ask your GP to refer you to your Regional Genetics Service to arrange screening for Tay Sachs.
  • Jnetics screening services include two screening clinics run in partnership with the NHS. These are the Barnet Clinic for those based in London and the Virtual Clinic for those living outside of London. Participation in these allows you to find out if you are a of Tay-Sachs disease as well as 8 other severe recessive disorders. Although this service is run in partnership with the NHS, since NHS funding is not available for the other 8 conditions, this subsidised service costs £190.

If you are not Jewish but have a history of Tay-Sachs disease in your family, your GP can refer you to a Regional Genetics Service for carrier testing covered by the NHS.

There is also the option of having private carrier testing for Tay-Sachs disease. Details of these private options can be found in the section other providers for carrier testing.