‘Our child was diagnosed with a severe genetic disorder that has a specific Jewish risk. A simple blood test could have identified our risk and helped prevent so much suffering – how could we not have known?’
Many people have heard of Tay-Sachs, but few are aware of the other genetic disorders that are also relatively more common in the Ashkenazi Jewish community. While these vary in severity and age of onset, they include diseases that are fatal in childhood and others associated with chronic disability and premature death.
The disorders are rare but devastating and can occur even where there is no family history.
1 in 5 people of Ashkenazi descent are a carrier of at least one of the main Jewish genetic disorders
As a ‘carrier’, you are unaffected by the disorder yourself but if your partner is also a carrier of the same disorder there is a high risk of passing it on to your children.
You can now identify whether or not you are a carrier by having a simple blood test. This test is particularly relevant for people who are currently, or at some point in the future, planning to start a family or expand their existing family.
Guy’s and St. Thomas’ NHS trust now offer a private ‘panel’ test covering 9 of the more severe disorders, alongside their existing free walk-in clinic for Tay-Sachs:
When: 9:30 – 11am every Monday morning (no appointment needed)
Where: 7th floor, Borough Wing, Guy’s Hospital, Great Maze Pond, London, SE1 9RT
Contact: 020 7188 1364
Cost: £330 per person
This new service, which you can discuss with a genetic counsellor, requires a single blood sample to test for the following disorders:
|Bloom Syndrome||Glycogen Storage Disease (type 1a)|
|Canavan Disease||Mucolipidosis IV|
|DYT1 Generalised Dystonia||Niemann-Pick Disease (type A)|
|Familial Dysautonomia||Tay Sachs Disease|
|Fanconi Anaemia (type C)|
Further details about each disorder can be found by clicking on the disorder name above, with the exception of Glycogen storage disease which is not currently covered by JGD UK.
A summary table providing a brief overview of all the conditions included in the panel test is given in the link below:
About the Guy’s Hospital panel test:
For further details about this panel test for Jewish genetic disorders, visit the Guy’s and St. Thomas’ NHS trust website or call their clinical genetics department on: 020 7188 1364.
Frequently asked questions about carrier testing:
Answers to common issues relating to carrier testing for Tay-Sachs and other Jewish genetic disorders can be found by clicking into our frequently asked questions section.