Updates for 2025 EQAs

Updated EQAs

1.  Classification and interpretation of germline CNVs (2025VCNVG)

The Classification of prenatal CNVs and Classification of postnatal CNVs EQAs have been joined into a single EQA.  

 

2. Breast cancer (2025TBCP)

The Breast cancer (PIK3CA) EQA has been updated to include both PIK3CA and ESR1.  Both FFPE and ctDNA samples will be offered for this EQA.  

 

3. Optical Genome Mapping (OGM) 

This EQA has been split into two EQAs for rare disease (2025OGMR) and haematological neoplasms (2025OGMH). 

 

4. Central Nervous System tumours (2025TCNS)

​This EQA will include methylation profiling as an optional case. 

 

5. Colorectal cancer - MMR (2025TCMMR)

Additional genes will be included in this EQA: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6

 

6. Genetic counselling 

This EQA has been split into two EQAs for rare disease (2025CGGR) and oncogenetics (2025CGGO)

 

7. Linkage analysis 

This EQA will be offered as an individual competency assessment using GENie in 2025. 

 

8. Differences in sex development (2025GDSD)

No optional DNA sample will be offered in the 2025 EQA. This EQA will consist of two online case scenarios only.

 

New EQA*

1. Pharmacogenomics: APOE (2025PGXE)* 

Testing of common variants in the APOE gene. 

 

2. Genomic molecular tumour board (MTB) for lung cancer (2025MMTB)*

An educational multi-stage case scenario based on a real clinical case requiring interpretation of test results, recording of MTB discussion and outcome of MTB. Pre and post MDB documentation are submitted along with a laboratory report.

 

3. Homologous recombination repair (HRD) testing (2025THRD)

 

*including late additions to 2024 directory