Test description
The testing of women experiencing either POI or early menopause-like symptoms, for fragile X, is therefore recommended. Female fragile X premutation carriers may suffer from fragile X associated primary ovarian insufficiency (FXPOI), which can lead to infertility and early menopause in some female carriers. Common symptoms of POI include absent or irregular periods and infertility.
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