Updates for 2025

Updated EQAs

Classification and interpretation of germline CNVs

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

Breast cancer

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

Optical Genome Mapping (OGM)

Split into two EQAs for rare disease and haematological neoplasms to provide EQA for different clinical cases.

Central Nervous system (CNS) tumours

Include methylation profiling as an optional case due to participant feedback.

Colorectal cancer - MMR

Include the following additional genes: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6.

Genetic counselling

Split into two EQAs for rare disease and oncogenetics, again in response to participant demand.

Linkage analysis

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

New EQA

1. Pharmacogenomics: APOE

Testing of common variants in the APOE gene.

2. Homologous recombination repair (HRD) testing

3. cfDNA extraction from plasma - somatic

Assessment of DNA quality and quantity from plasma samples.

4. cfDNA extraction from plasma - prenatal

Assessment of DNA quality and quantity from plasma samples.

For the full list of 2025 EQAs go to www.genqa.org/eqa

Please see our live calendar at www.genqa.org/calendar for EQA distribution/assessment dates.

For updates to our individual competency assessments, see www.genqa.org/genie

New EQA specialty

To reflect GenQA's expanding remit for genomic EQAs, we have an additional specialty of Multi-Disciplinary Team (MDT) working.

EQA participation will be expected from the multidisciplinary team, including clinicians and laboratory staff.

Newly accredited EQA

Clinical Genetics for Cardiovascular (2025CGC)

Clinical Genetics for Dysmorphology (2025CGD)

Clinical Genetics for Monogenic Disorders (2025CGM)

Clinical Genetics for Oncogenetics (2025CGO)

DNA extraction from fresh tissue (2025DNAF)

DNA Quantification (2025DNAQ)

Severe Combined Immunodeficiency (SCID) Molecular Newborn Screening (2025NBST1)

EQA Discounts (valid on orders placed before 31st January 2025)

1. Enrol in any 4 Clinical Genetics EQAs and get a Genetic Counselling EQA for free!

2. Enrol in 10 Genomic and Inherited disorders accredited EQAs - save £100!

3. Enrol in 15 Genomic and Inherited disorders accredited EQAs - save £250!

4. Enrol in 20 Genomic and Inherited disorders accredited EQAs -save £500!

5. Enrol in 3 accredited Haematological Neoplasms EQAs and get Classification of Haematological neoplasms variants EQA for free!

6. Enrol in a colorectal cancer, melanoma and a lung cancer EQA and get Classification of Somatic solid tumour variants EQA for free!

7. Enrol in one Pharmacogenomics EQA and get Pharmacogenomics panel EQA for free!

8. Enrol in 3 Preimplantation Genetic Testing (PGT) EQAs and get one at half price!

9. Enrol in 3 accredited Reproductive Genomics EQAs and get one at half price!

10. Enrol in an NGS EQA and get a Classification of SNVs/CNVs EQA for free!

EQA name updates

Following participant feedback, some minor changes have been made to the name of the following EQAs, although the content of the EQA remains unchanged:

2025 EQA	2024 EQA
Trio sequencing - prenatal (2025REXE)	Exome sequencing trio - prenatal
Trio sequencing - postnatal (2025GEXO)	Exome sequencing trio - postnatal
cfDNA extraction from plasma - somatic (2025DNAC)	cfDNA extraction from plasma
Parathyroid and Calcium Regulation disorders (2025GCAL)	Calcium disorders