Test description
Caused by inherited mutations in the FMR1 gene, Fragile X syndrome is the most common cause of familial intellectual disability. This is an X-linked disorder with a complex clinical phenotype.
Test information
Test name
Fragile X
Clinical indication
- For the investigation of intellectual disability, developmental delay, autism, late-onset ataxia, neurodegeneration or premature ovarian failure.
- Risk assessment of a relative of a person with an FMR1 mutation
Gene(s)
FMR1
Method
PCR Fragment Sizing
Turn around time
2 weeks
Medicare eligibility
73300 – criteria apply
Price
If not MBS eligible, please contact 1800 822 999 for pricing details
Test request form
Standard pathology request form
Sample type
Blood
Collection type
6mL EDTA tube
Special instructions
None