Development of UKGTN Testing Criteria for Fragile X Syndrome
Written by 1 October 2010on
The UKGTN organised an expert workshop on December 2nd 2008 to develop testing criteria for Fragile X Syndrome. Twenty four invited experts participated in the workshop and included Clinical Geneticists with a special interest in this condition, Paediatricians, Clinical Endocrinologists, Consultant Psychiatrists, Genetic Counsellors, Patient Representation (Fragile X Society) and Molecular/Cytogenetic Scientists. The UKGTN Steering Group endorsed the testing criteria and summary report at the September 29th 2010 meeting.
Testing Criteria were developed for the following clinical scenarios and are available for download below and from the UKGTN on-line database :
- Fragile X Syndrome (Full mutation) in males
- Fragile X Syndrome in females (as index case)
- Fragile X carrier, or premutation test in relatives with known family history
Further information on Fragile X Syndrome genetic tests is available by accessing the UKGTN Genetic Test database here.