Test Directory

FOXL2 mutation analysis

Containers - Adult

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FFPE block / H&E slide / Pathology report

Laboratory Site

RIE
51 Little France Crescent
Old Dalkeith Road
Edinburgh
EH16 4SA
Telephone: 0131 536 1000

Transport arrangements

Referral specimens should be sent directly to Molecular Pathology at the above address (see transport recommendations). For patients with pathology specimens held within NHS Lothian there is no need to arrange transport of specimens.

How to request

Testing for NHS Lothian patients can be requested by email to molecular.pathology@nhslothian.scot.nhs.uk. Referral requests must be accompanied by a completed request form.

Molecular Pathology Request form v11_PDF.pdf

 

Please also refer to our detailed requesting instructions.

Availability

Monday - Friday. 09:00 – 17:00

Anticipated turnaround

An integrated Molecular Pathology report should be available within 10 working days. See results.

Static information/disclaimer

This test is accredited to ISO 15189:2012.

Please note, alternative methodologies may be used. Full details will be included in all reports.

General additional information

Adult granulosa cell tumours (AGCTs) are low-grade malignant sex cord-stromal tumours of the ovary. They are uncommon, accounting for less than 5% of malignant ovarian tumours. Their growth is slow and indolent, but local recurrence or metastasis occurs in up to 20-30% of cases,

The FOXL2 c.402C>G p.(Cys134Trp) variant is detected in ~95% of AGCTs and not detected in benign cellular fibromas (CFs). Therefore, the presence or absence of a FOXL2 c.402C>G p.(Cys134Trp) aids clinicians with the accurate disease classification. FOXL2 mutation analysis is carried out by Sanger sequencing.

​For clinical advice on appropriate investigations, please contact our Molecular Pathology team