Karyotype (female)
Full chromosome check from a blood sample.
- Sample
- Peripheral blood
- Method
- G-banded karyotyping (cultured cells)
- Price
- On request
About this test
Full chromosome analysis detecting translocations, mosaicism and numerical anomalies.
What the report contains
Full karyotype, noting any translocations, mosaicism or numerical anomalies.
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
- FMR1 / POI
Fragile-X changes linked to early loss of ovarian function.
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