Molecular Pathology reports are fully integrated within APEX and are available electronically via TRAK.  For samples sent from out with NHS Lothian, reports are returned to the requesting clinician and a report is sent to the source pathology department.
 
The Department of Laboratory Medicine adheres to NHS Lothian’s Policy on Confidentiality of Personal Health Information, meaning that results can only be communicated to individuals authorised to receive them.
 
Molecular Pathology reports incorporate histological, morphometric, molecular genetic and cytogenetic information, and will typically include a morphological assessment of the suitability of the specimen, individual test results, a statement on the likely response to therapy (if applicable) and details of the methodology employed.
 
Expected turnaround times for each test, or panel of tests, are as follows:
 
 ​Turnaround (calendar days)​
​Lung Cancer:​
​        EGFR, KRAS and ALK and ROS1 (IHC only)14
​        ALK or ROS1 FISH (additional if required)14
​        EGFR testing of cell-free tumour DNA7
​        PD-L1 immunohistochemistry14
        RET fusion14
​Melanoma:​
​        BRAF14
​        NRAS and KIT (additional if required)14
​Colorectal Cancer:​
​        KRAS, NRAS and BRAF14
​        Mismatch repair analysis (IHC and BRAF/MSI as appropriate)14
​        MMR analysis for histological diagnosis or treatment stratification7
        MLH1 promoter methylation28
​Neuropathology:​
​        MGMT methylation analysis7
        IDH1 and IDH2
14
        TERT promoter mutation14
​Gastric Cancer:​
​        HER2 copy number analysis14
​Gastrointestinal Stromal Tumour (GIST):​
​        KIT and PDGFRA14
​Thyroid Cancer:​
​        BRAF14  [7 for anaplastic thyroid]
        RAS14
       TERT14
Endometrial cancer: 
        POLE14
        TP5314
        MLH1 promoter methylation28
Sarcoma: 
        FISH testing (DDIT3 gene rearrangement, EWSR1 gene rearrangement, FOXO1 gene rearrangement, FUS gene rearrangement, MDM2 gene amplification, SS18 gene rearrangement, USP6 gene rearrangement)14
Pharmacogenomics: 
        DPYD genotyping7
For guidance on interpretation of Molecular Pathology reports or for any queries please contact a member of the Molecular Pathology team.

Quality Assurance

The Molecular Pathology service carries accreditation to international standard ISO15189:2012. 

All investigations are subject to rigorous Internal Quality Control (IQC) measures and the laboratory participates in the following External Quality Assurance (EQA) schemes:

  • GenQA Colorectal cancer - MMR (MSI)
  • GenQA Lung cancer - comprehensive (molecular)
  • GenQA Melanoma
  • GenQA Central Nervous System (CNS) Tumours
  • GenQA/EMQN  Circulating free (cf) DNA testing in Lung cancer
  • GenQA DNA Extraction from formalin-fixed paraffin embedded (FFPE) tissue
  • GenQA DNA extraction from venous blood
  • GenQA DNA Quantification
  • GenQA Gastrointestinal stromal tumours (GIST)
  • GenQA/EMQN  Next Generation Sequencing (Somatic) - tumour testing only Pilot
  • GenQA Pathogenicity of somatic sequence variants (pilot)
  • GenQA Prediction of 5-Flurouracil Toxicity (DPYD)
  • GenQA Lung Cancer - fusions (Molecular)
  • GenQA Endometrial Tumours (pilot)
  • GenQA Cholangiocarcinoma (Pilot)
  • GenQA Lung cancer - fusions (FISH-IHC)
  • GenQA Renal tumours
  • GenQA Sarcoma
  • GenQA Thyroid cancer
  • NEQAS IHC & ISH HER2 gene amplification by in situ hybridisation - Technical and Interpretive
  • NEQAS IHC & ISH ALK gene translocation by in situ hybridisation (pilot)
  • NEQAS IHC & ISH ROS1 gene translocation by in situ hybridisation (pilot)

Due to the rapid pace of developments in the field of Molecular Pathology, the department may offer certain services before they have been accredited to ISO 15189.  In all instances, relevant tests will have undergone a period of internal validation/verification and have been deemed suitable for diagnostic use prior to being offered to users.

The current accreditation status of individual tests can be found in relevant sections of our test directory and will always be clearly marked on any reports issued by the service.

Measurement Uncertainty

The impact and estimates of measurement uncertainty are determined for all relevant assays. These are available, on request to users.