Test Directory

IDH1 and IDH2 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.

 
 
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

The pyrosequencing test is accredited to ISO 15189.  This NGS test is also accredited to ISO 15189:2012.

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

 

General additional information

​The 2016 World Health Organisation Classification of Tumours of the Central Nervous System (CNS) requires the classification of CNS tumours using a broad range of molecular tests; accurate classification is essential for selection of appropriate treatment modalities. Detection of mutations in IDH1 and IDH2 assists the differential diagnosis of gliomas and provides key diagnostic and prognostic information: IDH mutation status is a definitive marker of secondary glioblastoma; astrocytomas and oligodendrogliomas can contain mutations in IDH1 or IDH2, whereas other CNS tumours usually do not contain these mutations.
 

IDH1 and IDH2 mutation analysis is carried out by NGSand pyrosequencing. The pyrosequencing assay detects and differentiates 5 different “hot spot” mutations within IDH1 and 6 different mutations within the IDH2 gene.  These regions account for 99.7% of reported mutations in the IDH1 and IDH2 genes.  For further details of the NGS assay, including regions assessed, click here.  

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