Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Inborn Errors of Metabolism (IEM) (GIEM)
Molecular testing for MCAD deficiency, Fabry disease, galactosaemia and other inborn errors of metabolism.
MCADD Molecular Newborn Screening (bloodspots) (NBSM1)
Molecular testing of newborn screening cards for ACADM variants, including c.985A>G p.(Lys329Glu), and determine their heterozygous/homozyous state.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Breast cancer (TBCP)
Molecular testing of breast cancers for PIK3CA and ESR1 variants in FFPE and cfDNA
Lung cancer - fusions (molecular) (TLFM)
Molecular testing of lung cancer: ALK, ROS1, MET and RET.
Solid tumour FISH (TSTF) NEW!
FISH testing for recurrent abnormalities in solid tumours.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Familial Hypercholesterolaemia (FH) (GFH)
Molecular testing for Familial hypercholesterolaemia.
Pharmacogenomics: APOE (pilot) (PGXE)
Molecular testing of the APOE gene.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Differences in Sex Development (DSD) (GDSD)
Molecular and cytogenomic testing for differences in sex development (DSD).
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Huntington disease (HD) and DRPLA (GHD)
Molecular testing for Huntington disease and DRPLA.
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Colorectal cancer - core (TCRC)
Molecular testing of colorectal cancer: KRAS, NRAS and BRAF.
Colorectal cancer - MMR (MSI) (TCMMR)
Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, MLH1, POLD1, POLE, PMS2, MSH2, MSH6, MSI and MLH1 promoter methylation.
Lung cancer - comprehensive (molecular) (TLCM)
Molecular testing of lung cancer for EGFR, KRAS, BRAF, MET (DNA only), HER2 (SNVs only), STK11, KEAP1, TP53 variants.
Melanoma (TM)
Molecular testing of melanoma.
Microsatellite instability testing (MSI) (TMSI)
Microsatellite instability testing (including BRAF and MLH1 promoter methylation if performed)
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
BRCA testing for ovarian and prostate cancer - somatic (TBS)
BRCA1 and BRCA2 testing and interpretation of results with respect to ovarian and prostate cancer.
BRCA testing for ovarian, breast, prostate and pancreatic cancer - germline (TBG)
BRCA1 and BRCA2 testing and interpretation in ovarian, breast, prostate and pancreatic cancer to determine treatment with PARP inhibitors - germline.
BRCA testing for prostate cancer - cfDNA (TBP)
Somatic testing of homologous recombination repair genes in circulating tumour DNA for determination of treatment with PARP inhibitor therapy in prostate cancer.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
BRCA testing for ovarian and prostate cancer - somatic (TBS)
BRCA1 and BRCA2 testing and interpretation of results with respect to ovarian and prostate cancer.
BRCA testing for ovarian, breast, prostate and pancreatic cancer - germline (TBG)
BRCA1 and BRCA2 testing and interpretation in ovarian, breast, prostate and pancreatic cancer to determine treatment with PARP inhibitors - germline.
BRCA testing for prostate cancer - cfDNA (TBP)
Somatic testing of homologous recombination repair genes in circulating tumour DNA for determination of treatment with PARP inhibitor therapy in prostate cancer.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with primary immunodeficiency.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Solid tumour FISH (TSTF) NEW!
FISH testing for recurrent abnormalities in solid tumours.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Cystic Fibrosis (CF) and CFTR-related disorders (GCF)
Molecular testing for cystic fibrosis (CF) and CFTR-related disorders.
Cystic Fibrosis (CF) Molecular Newborn screening (bloodspots) (NBSC1)
Molecular testing of newborn screening cards for CFTR variants to determine their heterozygous/homozyous state.
Infertility (GINF)
Molecular and cytogenomic testing for infertility.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with primary immunodeficiency.
Differences in Sex Development (DSD) (GDSD)
Molecular and cytogenomic testing for differences in sex development (DSD).
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Pharmacogenomics: CYP2C19 (PGXC)
Molecular testing of the CYP2C19 gene.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Bone Marrow Failure syndromes (pilot) (HBMF) NEW!
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.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Muscular dystrophies (GMD)
Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).
Hypotonic Infant (GHI)
Molecular and cytogenomic testing for DM1, PWS and SMA.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Pharmacogenomics: DPYD (PGXD)
Molecular testing of the DPYD gene.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Circulating free (cf) DNA testing in lung cancer (TCFD)
cfDNA testing for hotspot variants in lung cancer.
Lung cancer - comprehensive (molecular) (TLCM)
Molecular testing of lung cancer for EGFR, KRAS, BRAF, MET (DNA only), HER2 (SNVs only), STK11, KEAP1, TP53 variants.
Lung cancer - EGFR only (TLE)
Molecular testing of lung cancer - EGFR testing only.
Muscular dystrophies (GMD)
Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Breast cancer (TBCP)
Molecular testing of breast cancers for PIK3CA and ESR1 variants in FFPE and cfDNA
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cholangiocarcinoma (TCC)
Molecular testing of IDH1, microsatellite instability and FGFR rearrangements in cholangiocarcinoma
Updated: 2026 EQA includes microsatellite instability
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Genitourinary tract tumours (TGTT) NEW!
Genitourinary tract tumours
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Fragile X syndrome and FMR1-related disorders (GFRAX)
Molecular testing for FMR1 (CGG)n repeats.
Infertility (GINF)
Molecular and cytogenomic testing for infertility.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Inborn Errors of Metabolism (IEM) (GIEM)
Molecular testing for MCAD deficiency, Fabry disease, galactosaemia and other inborn errors of metabolism.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Charcot Marie Tooth disease (CMT) and related sensory and motor neuropathies (GCMT)
Molecular testing for Charcot Marie Tooth disease (CMT) and Hereditary Liability to Pressure Palsies (HNPP)
Inborn Errors of Metabolism (IEM) (GIEM)
Molecular testing for MCAD deficiency, Fabry disease, galactosaemia and other inborn errors of metabolism.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Lung cancer - comprehensive (molecular) (TLCM)
Molecular testing of lung cancer for EGFR, KRAS, BRAF, MET (DNA only), HER2 (SNVs only), STK11, KEAP1, TP53 variants.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Huntington disease (HD) and DRPLA (GHD)
Molecular testing for Huntington disease and DRPLA.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Central Nervous System (CNS) tumours (TCNS)
Testing for 1p/19q co-deletion status and/or MGMT promotor methylation and/or IDH1/IDH2 status in CNS tumours.
Cholangiocarcinoma (TCC)
Molecular testing of IDH1, microsatellite instability and FGFR rearrangements in cholangiocarcinoma
Updated: 2026 EQA includes microsatellite instability
Central Nervous System (CNS) tumours (TCNS)
Testing for 1p/19q co-deletion status and/or MGMT promotor methylation and/or IDH1/IDH2 status in CNS tumours.
Chronic Lymphocytic Leukaemia (CLL) IGHV mutation status (HCLLI)
Analysis for IGHV mutation status in chronic lymphocytic leukaemia DNA samples.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with primary immunodeficiency.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Lung cancer - comprehensive (molecular) (TLCM)
Molecular testing of lung cancer for EGFR, KRAS, BRAF, MET (DNA only), HER2 (SNVs only), STK11, KEAP1, TP53 variants.
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Gastrointestinal stromal tumours (GIST) (TGT)
Molecular testing of gastrointestinal stromal tumours: KIT and PDGFRA.
Melanoma (TM)
Molecular testing of melanoma.
Circulating free (cf) DNA testing in lung cancer (TCFD)
cfDNA testing for hotspot variants in lung cancer.
Colorectal cancer - core (TCRC)
Molecular testing of colorectal cancer: KRAS, NRAS and BRAF.
Colorectal cancer - MMR (MSI) (TCMMR)
Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, MLH1, POLD1, POLE, PMS2, MSH2, MSH6, MSI and MLH1 promoter methylation.
Lung cancer - comprehensive (molecular) (TLCM)
Molecular testing of lung cancer for EGFR, KRAS, BRAF, MET (DNA only), HER2 (SNVs only), STK11, KEAP1, TP53 variants.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Familial Hypercholesterolaemia (FH) (GFH)
Molecular testing for Familial hypercholesterolaemia.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Muscular dystrophies (GMD)
Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Neurofibromatosis and rasopathies (GNF)
Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Epilepsy disorders (GEP)
Molecular testing for disorders associated with early onset or syndromic epilepsy (including Rett syndrome, Tuberous sclerosis and Dravet syndrome).
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Lung cancer - comprehensive (molecular) (TLCM)
Molecular testing of lung cancer for EGFR, KRAS, BRAF, MET (DNA only), HER2 (SNVs only), STK11, KEAP1, TP53 variants.
Lung cancer - fusions (molecular) (TLFM)
Molecular testing of lung cancer: ALK, ROS1, MET and RET.
Solid tumour FISH (TSTF) NEW!
FISH testing for recurrent abnormalities in solid tumours.
Charcot Marie Tooth disease (CMT) and related sensory and motor neuropathies (GCMT)
Molecular testing for Charcot Marie Tooth disease (CMT) and Hereditary Liability to Pressure Palsies (HNPP)
Central Nervous System (CNS) tumours (TCNS)
Testing for 1p/19q co-deletion status and/or MGMT promotor methylation and/or IDH1/IDH2 status in CNS tumours.
Colorectal cancer - MMR (MSI) (TCMMR)
Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, MLH1, POLD1, POLE, PMS2, MSH2, MSH6, MSI and MLH1 promoter methylation.
Endometrial tumours (TET)
Molecular testing of endometrial tumours: POLE, TP53, Microsatellite instability (MSI), MLH1 promoter methylation.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Microsatellite instability testing (MSI) (TMSI)
Microsatellite instability testing (including BRAF and MLH1 promoter methylation if performed)
Charcot Marie Tooth disease (CMT) and related sensory and motor neuropathies (GCMT)
Molecular testing for Charcot Marie Tooth disease (CMT) and Hereditary Liability to Pressure Palsies (HNPP)
Colorectal cancer - MMR (MSI) (TCMMR)
Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, MLH1, POLD1, POLE, PMS2, MSH2, MSH6, MSI and MLH1 promoter methylation.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Colorectal cancer - MMR (MSI) (TCMMR)
Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, MLH1, POLD1, POLE, PMS2, MSH2, MSH6, MSI and MLH1 promoter methylation.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Pharmacogenomics: Aminoglycoside ototoxicity (PGXA)
Molecular testing of the MT-RNR1 gene.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Neurofibromatosis and rasopathies (GNF)
Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.
Neurofibromatosis and rasopathies (GNF)
Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Differences in Sex Development (DSD) (GDSD)
Molecular and cytogenomic testing for differences in sex development (DSD).
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Colorectal cancer - core (TCRC)
Molecular testing of colorectal cancer: KRAS, NRAS and BRAF.
Colorectal cancer - MMR (MSI) (TCMMR)
Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, MLH1, POLD1, POLE, PMS2, MSH2, MSH6, MSI and MLH1 promoter methylation.
Melanoma (TM)
Molecular testing of melanoma.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
NTRK fusions (TNTRK)
Pan-cancer NTRK fusions testing in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
NTRK fusions (TNTRK)
Pan-cancer NTRK fusions testing in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
NTRK fusions (TNTRK)
Pan-cancer NTRK fusions testing in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Pharmacogenomics: TPMT and NUDT15 (PGXT)
Molecular testing of the TPMT and NUDT15 genes.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Gastrointestinal stromal tumours (GIST) (TGT)
Molecular testing of gastrointestinal stromal tumours: KIT and PDGFRA.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Breast cancer (TBCP)
Molecular testing of breast cancers for PIK3CA and ESR1 variants in FFPE and cfDNA
Lung cancer - comprehensive (molecular) (TLCM)
Molecular testing of lung cancer for EGFR, KRAS, BRAF, MET (DNA only), HER2 (SNVs only), STK11, KEAP1, TP53 variants.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Charcot Marie Tooth disease (CMT) and related sensory and motor neuropathies (GCMT)
Molecular testing for Charcot Marie Tooth disease (CMT) and Hereditary Liability to Pressure Palsies (HNPP)
Colorectal cancer - MMR (MSI) (TCMMR)
Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, MLH1, POLD1, POLE, PMS2, MSH2, MSH6, MSI and MLH1 promoter methylation.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Colorectal cancer - MMR (MSI) (TCMMR)
Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, MLH1, POLD1, POLE, PMS2, MSH2, MSH6, MSI and MLH1 promoter methylation.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Colorectal cancer - MMR (MSI) (TCMMR)
Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, MLH1, POLD1, POLE, PMS2, MSH2, MSH6, MSI and MLH1 promoter methylation.
Endometrial tumours (TET)
Molecular testing of endometrial tumours: POLE, TP53, Microsatellite instability (MSI), MLH1 promoter methylation.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Breast cancer (TBCP)
Molecular testing of breast cancers for PIK3CA and ESR1 variants in FFPE and cfDNA
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Neurofibromatosis and rasopathies (GNF)
Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Lung cancer - fusions (molecular) (TLFM)
Molecular testing of lung cancer: ALK, ROS1, MET and RET.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Solid tumour FISH (TSTF) NEW!
FISH testing for recurrent abnormalities in solid tumours.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Lung cancer - fusions (molecular) (TLFM)
Molecular testing of lung cancer: ALK, ROS1, MET and RET.
Solid tumour FISH (TSTF) NEW!
FISH testing for recurrent abnormalities in solid tumours.
Bone Marrow Failure syndromes (pilot) (HBMF) NEW!
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.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
SARS-CoV-2 sequencing (SCOV)
SARS-CoV-2 sequencing analysis. A collaborative EQA run jointly by GenQA and UK NEQAS for Microbiology. Participants will be required to register with UK NEQAS for Microbiology for this EQA (a GenQA account will then be created). All invoicing and shipment costs will be via UK NEQAS for Microbiology.
Epilepsy disorders (GEP)
Molecular testing for disorders associated with early onset or syndromic epilepsy (including Rett syndrome, Tuberous sclerosis and Dravet syndrome).
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with primary immunodeficiency.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Neurofibromatosis and rasopathies (GNF)
Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Hypotonic Infant (GHI)
Molecular and cytogenomic testing for DM1, PWS and SMA.
Spinal Muscular Atrophy (SMA) Molecular Newborn screening (bloodspots) (NBSS1)
Molecular testing of newborn screening cards for SMN1 deletions.
Hypotonic Infant (GHI)
Molecular and cytogenomic testing for DM1, PWS and SMA.
Hypotonic Infant (GHI)
Molecular and cytogenomic testing for DM1, PWS and SMA.
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Neurofibromatosis and rasopathies (GNF)
Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.
Differences in Sex Development (DSD) (GDSD)
Molecular and cytogenomic testing for differences in sex development (DSD).
Differences in Sex Development (DSD) (GDSD)
Molecular and cytogenomic testing for differences in sex development (DSD).
Infertility (GINF)
Molecular and cytogenomic testing for infertility.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Lung cancer - comprehensive (molecular) (TLCM)
Molecular testing of lung cancer for EGFR, KRAS, BRAF, MET (DNA only), HER2 (SNVs only), STK11, KEAP1, TP53 variants.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Genitourinary tract tumours (TGTT) NEW!
Genitourinary tract tumours
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Solid tumour FISH (TSTF) NEW!
FISH testing for recurrent abnormalities in solid tumours.
Genitourinary tract tumours (TGTT) NEW!
Genitourinary tract tumours
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Chronic Lymphocytic Leukaemia (CLL) TP53 mutation analysis (HCLLT)
Analysis for TP53 mutation status in chronic lymphocytic leukaemia DNA samples.
Endometrial tumours (TET)
Molecular testing of endometrial tumours: POLE, TP53, Microsatellite instability (MSI), MLH1 promoter methylation.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Lung cancer - comprehensive (molecular) (TLCM)
Molecular testing of lung cancer for EGFR, KRAS, BRAF, MET (DNA only), HER2 (SNVs only), STK11, KEAP1, TP53 variants.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Pharmacogenomics: TPMT and NUDT15 (PGXT)
Molecular testing of the TPMT and NUDT15 genes.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Epilepsy disorders (GEP)
Molecular testing for disorders associated with early onset or syndromic epilepsy (including Rett syndrome, Tuberous sclerosis and Dravet syndrome).
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Epilepsy disorders (GEP)
Molecular testing for disorders associated with early onset or syndromic epilepsy (including Rett syndrome, Tuberous sclerosis and Dravet syndrome).
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Pharmacogenomics: UGT1A1 (pilot) (PGXU) NEW!
Molecular testing of the UGT1A1 gene.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Solid tumour FISH (TSTF) NEW!
FISH testing for recurrent abnormalities in solid tumours.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Updated: The content and format of this EQA is under review, pending feedback from the 2025 EQA results. Please contact info@genqa.org for more information. Additional genes will be added to the panel for 2026.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
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