Diagnosis and Testing
DIAGNOSIS AND TESTING
A diagnosis of Fragile X is made through a DNA test, usually blood test but a cheek swab is possible. You can organise the test though your GP or paediatrician or any medical doctor.
The blood can be collected by your doctor or a pathology centre. Test results are usually available approximately 4 to 8 weeks after the sample is taken but the time taken can vary.
The test that is required is DNA studies for Fragile X syndrome. Five to ten mls of blood will be collected into a lithium heparin or EDTA tube. Your your doctor will check which anticoagulant is required by the laboratory. The blood is then transported immediately without freezing.
Tests for Fragile X carried out before 1991 may not be correct and the results of cytogenetic tests since then may be inaccurate. People who were tested before 1991 or who have only had a cytogenetic test should have a DNA test.
The position of Fragile X Association of Australia on diagnosis and screening is included on this website at: