Female Factor

FMR1 / POI

Fragile-X changes linked to early loss of ovarian function.

Sizes FMR1 CGG repeats; the premutation range is linked to fragile-X-associated ovarian insufficiency.

Specimen
EDTA blood
Methodology
PCR ± Southern blot (CGG repeat sizing)
Category
Female Factor

Pricing is available through your BioBloom portal or on request.

How it works

  1. 1

    Order

    Place the order through the BioBloom portal.

  2. 2

    Sample

    Collect the sample — EDTA blood.

  3. 3

    Analysis

    Laboratory analysis — PCR ± Southern blot (CGG repeat sizing).

  4. 4

    Report

    Secure report delivered to your clinic through the portal.

What’s in the report

FMR1 CGG repeat size and category (normal / intermediate / premutation / full).

Research & evidence

Well-established

Female factor

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.

Read the research

Accreditations & governance

  • ICO logo

    ICO registered

  • MHRA logo

    MHRA registered

  • ISO logo

    ISO 15189 accredited laboratory.

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