Tay Sachs information for patients

 

Who can be tested for Tay Sachs?

Ashkenazi Jews have the highest risk of carrying Tay Sachs disease. Non-Ashkenazi Jews carry a low risk. We are happy to test anyone of Jewish descent.

If you are a non-Jewish partner of a Jewish person, or if you are from any ethnic group with a family history of Tay Sachs (or the related condition known as Sandhoff disease), we can also test you if you wish.

How can I arrange a test?

If you are entitled to NHS treatment and live in London (or the surrounding areas) the test is free and you can come to our walk-in clinic at Guy’s, arrange an appointment at Barnet General Hospital, or ask your GP to take your blood tests.  Open the tabs below for more information.

  • Walk-in clinic at Guy's

    We provide a walk-in clinic for Tay Sachs carrier testing. You do not need a referral or appointment, you can just turn up.

    • Frequency: Weekly on Mondays, 9.30am-11am (except bank holidays)
    • Location: Clinical genetics, 7th floor Borough Wing, Guy's Hospital
    • Tel: 020 7188 1364
    • Clinic staff: Genevieve Say and Sara Levene, genetic counsellors

    Remember to bring your GP details with you.

    If a woman coming to the clinic is pregnant, we would advise both partners to come to the clinic together.

  • Arrange to have a test in Barnet

    You could arrange an appointment at Barnet General Hospital on a Thursday morning. Blood tests are by appointment only.

    You can book online or call 020 8375 1471 to make your appointment.

  • Ask your GP 

    As an alternative to going to a clinic, your GP can take the necessary blood samples and send these to us for testing.

     

    Patient history

    Blood samples needed

    Patients who are not pregnant and have no familiy history of Tay Sachs, including no carriers in the family

    • 10ml lithium heparin
    • 3ml clotted blood  

    Patients who are not pregnant but do have a family history of Tay Sachs, including carriers in the family

    • 10 ml lithium heparin
    • 3ml clotted blood
    • 5ml EDTA  

    Pregnant women

    • 10ml lithium heparin
    • 5ml EDTA  

    Partners of a pregnant woman

    • 10 ml lithium heparin
    • 3ml clotted blood
    • 5ml EDTA  

If you are entitled to NHS treatment and live outside London, your GP can refer you to a clinic closer to your home.

If you are not entitled to NHS treatment, a private doctor could take your blood and send it to the doctor’s laboratory.

How long will it take to get my results?

Routine test results are sent out within 3 weeks. Urgent test results (ie. in pregnancy) are sent out within 2 weeks.


Testing for other disorders at the Tay Sachs clinic

Although many people have heard of Tay Sachs disease, there are several other genetic disorders commonly seen in the Jewish population. In Israel and the USA, additional carrier tests have been added over time. These can be done as part of a ‘panel test', alongside Tay Sachs carrier testing.

The NHS has funded Tay Sachs screening for many years, but not any additional tests. We now offer an additional panel test as a private test when you come for an NHS Tay Sachs test. 

  • Disorders covered by the panel test 

    • Bloom syndrome (1 in 100 Ashkenazi Jews are carriers)
    • Canavan disease (1 in 40 - 57 Ashkenazi Jews are carriers)
    • Cystic fibrosis (1 in 25 - 29 Ashkenazi Jews are carriers)
    • Familial dysautonomia (1 in 30 Ashkenazi Jews are carriers)
    • Fanconi anaemia type C (1 in 89 Ashkenazi Jews are carriers)
    • Glycogen storage disease 1a (1 in 71 Ashkenazi Jews are carriers) 
    • Mucolipidosis IV (1 in 100 - 125 Ashkenazi Jews are carriers)
    • Niemann-Pick disease type A (1 in 90 Ashkenazi Jews are carriers)
    • Tay Sachs Disease (1 in 26 - 30 Ashkenazi Jews are carriers)

    More information about these conditions can be found on the Jewish Genetic Disorders website

  • What does the test cost?

    The additional panel test costs £330 per person. The NHS Tay Sachs carrier test is still free.

  • Having the test 

    You will see a poster about the panel test in the Tay Sachs clinic. We will also give you an information leaflet. If you are interested, a genetic counsellor will answer your questions and take blood samples. You receive the results in 2 - 4 weeks.

    We can store your blood for up to 7 days if you’re not sure whether to have the test. Don’t forget, you can decide to have just the NHS Tay Sachs test, which is free.  

    We will be offering this private test as a pilot service to see the levels of interest in this extra test.  

    If you have a family history of any genetic condition and would like to be referred for a full genetics assessment, then please ask your GP to refer to your local genetics clinic in writing.