Overview

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability. People with FXS can have developmental delay, learning difficulties, anxiety, autism and epilepsy. The features of FXS vary from mild to severe with males more likely to be severely affected than females because the gene is found on the X-chromosome. 

Category

Cost

All patients: Medicare rebate (bulk billed): $86.15 (PCR test), $172.30 (Southern blot).

Non-Medicare patients: $101.30 (PCR test), $202.65 (Southern blot).

Reporting time

PCR: 2-3 weeks

Southern blot: 2-3 weeks

Contacts

David Francis

Phone (03) 8341 6258 (Lab)

Phone (03) 8341 6282 (direct)

Specimen Requirements

EDTA Blood: Adults/ Children: 5 ml

Infants: 1-2 ml

Neonates: 0.5-1 ml

Saliva (contact VCGS for kits)

For difficult paediatric collections, a maternal blood sample (CLEARLY LABELLED) can be supplied. Please contact the Lab for more information.

Notes

Any patient with a family history of Fragile X syndrome or an inconclusive PCR test will require Southern blot testing.

Genes tested