Update for 2027 EQAs

Updated EQAs

1. Classification and interpretation of germline variants (2027VGC)

This EQA combines the previous Classification and interpretation of germline CNVs EQA and Classification and interpretation of germline SNVs and indels EQA into a single EQA.  

 

2. Molecular Newborn screening for SMA (2027NBSS1)

Optional SMN2 copy number cases can be purchased.

 

3. Genetic counselling - Inherited cancer disorders (2027CGGO)

Previously called Genetic counselling - Oncogenetics. 

 

4. Clinical Genetics - Inherited cancer disorders (2027CGO)

Previously called Clinical Genetics - Oncogenetics. 

 

5. Pharmacogenomics: MT-RNR1 (2027PGXA)

Previously called Pharmacogenomics: Aminoglycoside ototoxicity. 

 

Multiple participation available for selected EQAs

Following participant feedback, we are pleased to announce that multiple participation is available for the following EQAs in 2027:

• Colorectal cancer – MMR (MSI)
• DNA quantification
• Lung cancer – comprehensive (molecular)
• Lung cancer – fusions (molecular) and MET skipping
• Maternal cell contamination (MCC) & fetal sexing
• Melanoma
• Postnatal Constitutional Copy Number Variant (CNV) detection
• Preimplantation genetic testing for monogenic disorders (PGT-M)
• Prenatal Constitutional Copy Number Variant (CNV) detection
• Sarcoma
• SCID Molecular Newborn Screening (bloodspots)
• Spinal Muscular Atrophy (SMA) Molecular Newborn Screening (bloodspots)

Instructions on how to set up multiple participation can be found on the home page when you log in to your GenQA account.

We may expand this feature to other EQAs where possible. If you are interested in multiple participation for an EQA that is not listed above, please get in touch with us.

 

EQAs updated to include performance criteria​

• cfDNA extraction from plasma - prenatal (2027DNAN)
• cfDNA extraction from plasma - somatic (2027DNAC)
• DNA extraction from blood for long read sequencing (2027DNAL)
• Pharmacogenomics: APOE (2027PGXE)
• Pharmacogenomics panel (2027PGXP)
• Pharmacogenomics panel (2027PGXU)
• Reproductive carrier screening (2027RPCS)
• Solid tumour FISH (2027TSTF)