Test Directory

MDM2 gene amplification

Containers - Adult

FFPE block / H&E slide / Pathology report

Laboratory Site

51 Little France Crescent
Old Dalkeith Road
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 or by discussion with an NHS Lothian Pathologist. Referral requests may be accompanied by a completed request form or covering letter.

Please also refer to our detailed requesting instructions.


Monday - Friday. 09:00 – 17:00

Anticipated turnaround

Turnaround times will vary depending on the nature of the report required. 

Individual FISH results should be available within 10 working days. See results.

Static information/disclaimer

This test is accredited to ISO 15189.

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

General additional information

Mouse double minute 2 homolog is encoded by the MDM2 gene at 12q15.  It is a negative regulator of the TP53 tumour suppressor gene, with MDM2 amplification thus promoting cell proliferation.  Ring and giant chromosomes composed of 12q13-15 amplicons are found in well-differentiated liposarcoma/atypical lipomatous tumour and dedifferentiated liposarcoma and are used clinically to distinguish these from benign lipomatous neoplasms as well as other high grade sarcomas.  The MDM2 gene lies telomeric to the cyclin-dependent kinase 4 (CDK4) gene on chromosome 12 and the two are frequently co-amplified.

A positive MDM2 gene amplification result is considered to be supportive evidence where a pathological diagnosis of well-differentiated liposarcoma/atypical lipomatous tumour or dedifferentiated liposarcoma is being considered.

MDM2 gene amplifications are detected by chromosome enumeration fluorescence in-situ hybridisation (FISH) analysis.  Formal counting of the MDM2 amplification ratio (relative to CEN12) is not normally required, but may be performed where there is low level amplification or a suspicion of aneuploidy.


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