Test Directory
KIT and PDGFRA mutation analysis
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
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
Analysis by Sanger sequencing is accredited to ISO 15189.
The NGS test is accredited to ISO 15189.
Please note: alternative methodologies may be used. Full details will be included in all reports.
General additional information
In gastrointestinal stromal tumours (GIST), the identification of KIT (exons 9, 11, 13 and 17) and PDGFRA (exons 12, 14, 18) mutations can aid histopathological diagnosis. In addition, KIT and PDGFRA mutations can help predict response to therapies including imatinib and sunitinib. KIT and PDGFRA mutation analysis is carried out by NGS or by Sanger sequencing.
A proportion of melanomas, most commonly acral and mucosal melanomas, also exhibit mutations in exons 9, 11, 13 and 17 of the KIT gene.
For clinical advice on appropriate investigations, please contact our Molecular Pathology team.