Fragile X is diagnosed by a DNA blood test.
The discovery of the fragile X gene in 1991 led to the development of reliable DNA tests which can be used to identify affected individuals and carriers.
Testing Procedure in the UK
Referral for a fragile X DNA blood test is usually arranged via a medical professional, usually the family GP, or by the child's paediatrician, if he or she one. The blood sample may be taken at a local hospital, but it will be tested at a local genetics centre.
This can be a very worrying time and if you would like any more information or you would like to simply speak to one of our support workers then please Contact Us.
Results of the test are usually available in 6 to 8 weeks, and no result should take more than 18 weeks. Result
giving can be face to face, over the phone, or in a letter with the offer of a follow up appointment.
What happens if the result is positive?
If the result is positive then families should be offered genetics counselling from a Genetics Counsellor, or a geneticist.This does not entail lying on a couch while someone asks “and how does it feel to have fragile X in the family”, but is a process where information is given about the condition and families have the opportunity to ask questions.
As fragile X is a genetically inherited condition, when one child in a family is diagnosed with fragile X, there are enormous implications for the parents, brothers and sisters of the child and for many other relatives.Usually, genetic centres construct a family tree and advise that information is shared with the relevant people.
In Scotland other family members may be invited to the clinic directly but some English centres require a GP referral for each patient.
How can we help?
Do seek support and Information from us - the Family Support section of the website contains information both about fragile X issues and about how we can help.
If the result of the test is that the adult or child is a carrier of fragile X, then our Carriers' Support and Information section of the website contains information both about carrier issues and about how we can help.
UK Genetics Centres
The addresses and contact details for all the UK Genetics Centres can be obtained from Jane or Wendy, our Family Support Workers, so please Contact Us if you need this information.
Caution : Early tests may be inaccurate
Prior to the early 1990s the tests that were used for fragile X were not always accurate or reliable. Many carriers were not identified. Some girls with fragile X were not diagnosed and a few boys who do not have fragile X were given the diagnosis in error.
Families who are unsure which tests they had should contact their genetics centre who will be able to tell them if any family members should be re-tested.
Fragile X is diagnosed by a DNA blood test.
The discovery of the fragile X gene in 1991 led to the development of reliable DNA tests which can be used to identify affected individuals and carriers.
Testing Procedure in the UK
Referral for a fragile X DNA blood test is usually arranged via a medical professional, usually the family GP, or by the child's paediatrician, if he or she one. The blood sample may be taken at a local hospital, but it will be tested at a local genetics centre.
This can be a very worrying time and if you would like any more information or you would like to simply speak to one of our support workers then please Contact Us.
Results of the test are usually available in 6 to 8 weeks, and no result should take more than 18 weeks. Result
giving can be face to face, over the phone, or in a letter with the offer of a follow up appointment.
What happens if the result is positive?
If the result is positive then families should be offered genetics counselling from a Genetics Counsellor, or a geneticist.This does not entail lying on a couch while someone asks “and how does it feel to have fragile X in the family”, but is a process where information is given about the condition and families have the opportunity to ask questions.
As fragile X is a genetically inherited condition, when one child in a family is diagnosed with fragile X, there are enormous implications for the parents, brothers and sisters of the child and for many other relatives.Usually, genetic centres construct a family tree and advise that information is shared with the relevant people.
In Scotland other family members may be invited to the clinic directly but some English centres require a GP referral for each patient.
How can we help?
Do seek support and Information from us - the Family Support section of the website contains information both about fragile X issues and about how we can help.
If the result of the test is that the adult or child is a carrier of fragile X, then our Carriers' Support and Information section of the website contains information both about carrier issues and about how we can help.
UK Genetics Centres
The addresses and contact details for all the UK Genetics Centres can be obtained from Jane or Wendy, our Family Support Workers, so please Contact Us if you need this information.
Caution : Early tests may be inaccurate
Prior to the early 1990s the tests that were used for fragile X were not always accurate or reliable. Many carriers were not identified. Some girls with fragile X were not diagnosed and a few boys who do not have fragile X were given the diagnosis in error.
Families who are unsure which tests they had should contact their genetics centre who will be able to tell them if any family members should be re-tested.