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Karyotype (female)

Full chromosome check from a blood sample.

Key facts

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

Evidence: Well-established

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.

Female factor: published evidence

More in Female factor

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