Although there is currently no cure for fragile X syndrome, diagnostic testing is important because there are many management and intervention strategies available to help the affected person reach his or her full potential.

Fragile X syndrome is diagnosed by a simple DNA blood test. In contrast to the earlier unreliable cytogenetic test, the DNA test is over 99% accurate.

The test is recommended for: 

•  Anyone with an intellectual disability (borderline to severe) of unknown cause 
•  Anyone previously tested with the unreliable cytogenetic test, especially people with an intellectual disability for whom the test was negative or inconclusive 
•  Anyone with a confirmed family history of fragile X syndrome who could have inherited the mutant gene, especially women considering having children 
•  Anyone with learning difficulties of unknown cause and emotional or behavioural features of fragile X (including autistic features, anxiety syndromes and ADHD) 
•  Women who experience premature menopause (menopause before the age of 40 years) 
•  Adult males (>50 years of age) who present with unexplained ataxia and/or essential tremor, parkinsonism and dementia

In New Zealand, fragile X testing is carried out by Genetic Services, which has offices in Auckland, Wellington and Christchurch. They can be contacted as follows:

Northern Regional Genetic Services
Building 18
Lower Ground Floor
Auckland Hospital
Auckland
(09) 307 4949 Ext. 5530
FREEPHONE:   0800 476 123

Central Regional Genetic Services
Wellington Hospital
Private Bag 7902
Wellington
(04) 385 5310
(04) 385 5822 Fax
FREEPHONE:   0508 364436 

Southern Regional Genetic Services
Room 124 Hagley
Christchurch Hospital
P.O. Box 151
Christchurch
(03) 379 1898
(03) 379 1343 Fax
FREEPHONE:   0508 364436

More detailed information can be found under “Testing” on the US National Fragile X Foundation website.

The Human Genetics Society of Australasia website has the key policy documents (pdf file; requires Acrobat Reader, which can be downloaded at this link) that guide New Zealand practice on testing for fragile X syndrome.