FMR1 / POI
Fragile-X changes linked to early loss of ovarian function.
- Sample
- EDTA blood
- Method
- PCR ± Southern blot (CGG repeat sizing)
- Price
- On request
About this test
Sizes FMR1 CGG repeats; the premutation range is linked to fragile-X-associated ovarian insufficiency.
What the report contains
FMR1 CGG repeat size and category (normal / intermediate / premutation / full).
Evidence and limitations
Karyotyping and FMR1 (fragile-X) premutation testing are guideline-recommended parts of the premature-ovarian-insufficiency and reduced-ovarian-reserve workup.
Limitations
These tests identify risk factors, not certainties. The FMR1 premutation is incompletely penetrant: it raises the risk of ovarian insufficiency but does not predict whether or when it will occur.
More in Female factor
- Karyotype (female)
Full chromosome check from a blood sample.
Register your clinic
Registration includes onboarding and training for your team. We reply within two working days.