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 IEM including MCAD deficiency, Fabry disease, Galactosaemia, Lysosomal storage disease, urea cycle defects.
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)
Case scenario for hypercalcaemia and hypocalcaemia.
Breast cancer (TBCP)
Molecular testing of breast cancers for PIK3CA and ESR1 variants in FFPE and cfDNA
Lung cancer - fusions (FISH/IHC) (TLFF)
Molecular testing using FISH/IHC of lung cancer: ALK, ROS1, MET and RET.
Lung cancer - fusions (molecular) (TLFM)
Molecular testing of lung cancer: ALK, ROS1, MET and RET.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Parathyroid and Calcium Regulation disorders (GCAL)
Case scenario for hypercalcaemia and hypocalcaemia.
Familial colorectal cancer and polyposis (GCRC) Fully Booked
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) NEW!
Molecular testing of the APOE gene.
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.
GENie BRCA and HRR gene variant classification assessment (BH)
Individual competency assessment for classification of BRCA1, BRCA2 and HRR gene variants, provided by the GenQA genomic education platform GENie.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC) Fully Booked
Molecular testing for disorders associated with HBOC.
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.
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.
Updated: The 2025 EQA will include the following additional genes: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6
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 (pilot) (TBP)
Somatic testing of homologous recombination repair genes in circulating tumour DNA for determination of treatment with PARP inhibitor therapy in prostate cancer.
GENie BRCA and HRR gene variant classification assessment (BH)
Individual competency assessment for classification of BRCA1, BRCA2 and HRR gene variants, provided by the GenQA genomic education platform GENie.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC) Fully Booked
Molecular testing for disorders associated with HBOC.
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 (pilot) (TBP)
Somatic testing of homologous recombination repair genes in circulating tumour DNA for determination of treatment with PARP inhibitor therapy in prostate cancer.
GENie BRCA and HRR gene variant classification assessment (BH)
Individual competency assessment for classification of BRCA1, BRCA2 and HRR gene variants, provided by the GenQA genomic education platform GENie.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC) Fully Booked
Molecular testing for disorders associated with HBOC.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC) Fully Booked
Molecular testing for disorders associated with HBOC.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with PID.
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)
Case scenario 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)
Case scenario 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)
Case scenario for hypercalcaemia and hypocalcaemia.
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.
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. THIS EQA IS FULL. PLEASE CONTACT THE INFO@GENQA.ORG TO REGISTER.
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 PID.
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.
Pharmacogenomics: CYP2C19 (PGXC)
Molecular testing of the CYP2C19 gene.
Updated with performance criteria
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.
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.
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 FFPE.
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 and FGFR rearrangements in cholangiocarcinoma
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.
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 FFPE.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
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 IEM including MCAD deficiency, Fabry disease, Galactosaemia, Lysosomal storage disease, urea cycle defects.
Parathyroid and Calcium Regulation disorders (GCAL)
Case scenario for hypercalcaemia and hypocalcaemia.
Parathyroid and Calcium Regulation disorders (GCAL)
Case scenario 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 IEM including MCAD deficiency, Fabry disease, Galactosaemia, Lysosomal storage disease, urea cycle defects.
Parathyroid and Calcium Regulation disorders (GCAL)
Case scenario for hypercalcaemia and hypocalcaemia.
Parathyroid and Calcium Regulation disorders (GCAL)
Case scenario 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.
Updated: In 2025, this EQA will include methylation profiling as an optional case.
Cholangiocarcinoma (TCC)
Molecular testing of IDH1 and FGFR rearrangements in cholangiocarcinoma
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.
Updated: In 2025, this EQA will include methylation profiling as an optional case.
Chronic Lymphocytic Leukaemia (CLL) IGHV mutation status (HCLLI)
Analysis for IGHV mutation status in chronic lymphocytic leukaemia samples: DNA and lyophilised cells.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with PID.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.
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.
Updated: The 2025 EQA will include the following additional genes: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6
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 FFPE.
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)
Case scenario 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 (FISH/IHC) (TLFF)
Molecular testing using FISH/IHC of lung cancer: ALK, ROS1, MET and RET.
Lung cancer - fusions (molecular) (TLFM)
Molecular testing of lung cancer: ALK, ROS1, MET and RET.
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.
Updated: In 2025, this EQA will include methylation profiling as an optional case.
Colorectal cancer - MMR (MSI) (TCMMR)
Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, MLH1, POLD1, POLE, PMS2, MSH2, MSH6, MSI and MLH1 promoter methylation.
Updated: The 2025 EQA will include the following additional genes: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6
Endometrial tumours (TET)
Molecular testing of endometrial tumours: POLE, TP53, Microsatellite instability (MSI), MLH1 promoter methylation.
Familial colorectal cancer and polyposis (GCRC) Fully Booked
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.
Updated: The 2025 EQA will include the following additional genes: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6
Familial colorectal cancer and polyposis (GCRC) Fully Booked
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.
Updated: The 2025 EQA will include the following additional genes: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6
Familial colorectal cancer and polyposis (GCRC) Fully Booked
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) Fully Booked
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 FFPE.
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.
Updated: The 2025 EQA will include the following additional genes: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6
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) Fully Booked
Molecular testing for Lynch syndrome, Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
NTRK fusions (TNTRK)
Pan-cancer NTRK fusions testing in FFPE.
NTRK fusions (TNTRK)
Pan-cancer NTRK fusions testing in FFPE.
NTRK fusions (TNTRK)
Pan-cancer NTRK fusions testing in FFPE.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
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.
GENie BRCA and HRR gene variant classification assessment (BH)
Individual competency assessment for classification of BRCA1, BRCA2 and HRR gene variants, provided by the GenQA genomic education platform GENie.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC) Fully Booked
Molecular testing for disorders associated with HBOC.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Parathyroid and Calcium Regulation disorders (GCAL)
Case scenario 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.
Updated: The 2025 EQA will include the following additional genes: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6
Familial colorectal cancer and polyposis (GCRC) Fully Booked
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.
Updated: The 2025 EQA will include the following additional genes: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6
Familial colorectal cancer and polyposis (GCRC) Fully Booked
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.
Updated: The 2025 EQA will include the following additional genes: POLD1, MLH1, POLE, PMS2, MSH2 and MSH6
Endometrial tumours (TET)
Molecular testing of endometrial tumours: POLE, TP53, Microsatellite instability (MSI), MLH1 promoter methylation.
Familial colorectal cancer and polyposis (GCRC) Fully Booked
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)
Case scenario 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) Fully Booked
Molecular testing for disorders associated with HBOC.
Parathyroid and Calcium Regulation disorders (GCAL)
Case scenario 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.
GENie BRCA and HRR gene variant classification assessment (BH)
Individual competency assessment for classification of BRCA1, BRCA2 and HRR gene variants, provided by the GenQA genomic education platform GENie.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC) Fully Booked
Molecular testing for disorders associated with HBOC.
GENie BRCA and HRR gene variant classification assessment (BH)
Individual competency assessment for classification of BRCA1, BRCA2 and HRR gene variants, provided by the GenQA genomic education platform GENie.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC) Fully Booked
Molecular testing for disorders associated with HBOC.
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 (FISH/IHC) (TLFF)
Molecular testing using FISH/IHC of lung cancer: ALK, ROS1, MET and RET.
Lung cancer - fusions (molecular) (TLFM)
Molecular testing of lung cancer: ALK, ROS1, MET and RET.
Parathyroid and Calcium Regulation disorders (GCAL)
Case scenario for hypercalcaemia and hypocalcaemia.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Lung cancer - fusions (FISH/IHC) (TLFF)
Molecular testing using FISH/IHC of lung cancer: ALK, ROS1, MET and RET.
Lung cancer - fusions (molecular) (TLFM)
Molecular testing of lung cancer: ALK, ROS1, MET and RET.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
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 PID.
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.
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 FFPE.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC) Fully Booked
Molecular testing for disorders associated with HBOC.
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)
Case scenario 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.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.
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) Fully Booked
Molecular testing for disorders associated with HBOC.
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.
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.
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 FFPE.
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Pharmacogenomics: panel (pilot) (PGXP)
Molecular testing of variants in common pharmacogenetics genes.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
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