Updates for 2026

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New EQAs

1. Bone Marrow Failure syndromes (2026HBMF)

Presentation at a haematology clinic of an individual with haematological problems/neoplasia and a positive family history. NGS analysis of haematological samples for recurrent genomic abnormalities associated with inheritable bone marrow failure syndromes. For analysis of follow up germline samples, please see the Inherited cytopenias EQA.

2. Inherited cytopenias (2026GIC)

Targeted testing for mutations in genes associated with inherited cytopenias. Scenarios could include germline confirmation testing, testing of family members or confirmation of diagnostic results obtained from NGS or WGS panels.

**3. Pharmacogenomics: UGT1A1 (2026PGXU)**

Testing of UGT1A1 variants.

4. Genitourinary tract tumours (2026TGTT)

Renal tumours and/or bladder cancer. TFE3 rearrangements (molecular only), FGFR SNVs and rearrangements (molecular only)

5. Solid tumour FISH (2026TSTF)

TFE3, ALK, ROS1, RET, FGFR2 rearrangements, MET amplification, CDKN2A copy number variants

For the full list of 2026 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

Updated EQAs

Cholangiocarcinoma (2026TCC): include microsatellite instability
Classification and interpretation of germline postnatal SNVs and indels (2026VGI): Classification only submissions will be accepted.
Differences in Sex Development (2026GDSD): an optional DNA sample will be included.
Genomic molecular tumour board (MTB) for solid tumours (2026MMTB): include solid tumours and cfDNA for solid tumours
Interpretation of RNA splicing variants (2026GRNA): an optional exploratory RNAseq case will be included.
Lymphoma (2026HYLYM): include Lymphoma Technical NGS.
Pharmacogenomics: panel (2026PGXP): the content and format of this EQA are updated with additional genes included.

Newly accredited EQA*

Classification and interpretation of germline CNVs (2026VCNVG)
DNA extraction from saliva (2026DNAS)
Pharmacogenomics: TPMT and NUDT15 (2026PGXT)
Spinal Muscular Atrophy (SMN) Molecular Newborn Screening (2026NBSS1)

(*updated November 2025)

Updates for 2026 EQAs