Test Directory
DDIT3 gene rearrangement
Containers - Adult
FFPE block / H&E slide / Pathology report
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Laboratory Site
Old Dalkeith Road
Edinburgh
EH16 4SA
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.
Availability
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
DNA damage-inducible transcript 3 (formerly C/EBP homologous protein; CHOP) is encoded by the DDIT3 gene. Translocations involving DDIT3 are well established in driving myxoid liposarcoma through fusions with EWS and FUS. Rare cases have been reported of amplification of DDIT3 in myxoid liposarcoma, although the significance of this is not known.
A positive DDIT3 gene rearrangement result is considered to be supportive evidence where a pathological diagnosis of myxoid liposarcoma is being considered.
DDIT3 gene rearrangements are detected by break-apart fluorescence in-situ hybridisation (FISH) analysis. The method will identify a chromosomal rearrangement involving the DDIT3 locus at 12q13, but not the specific gene fusion partner.
For clinical advice on appropriate investigations, please contact our Molecular Pathology team.