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).
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.
Acute Lymphoblastic Leukaemia (ALL) (HALL)
Analysis and interpretation of recurrent and non-recurrent abnormalities associated with acute lymphoblastic leukaemia.
Haematological Technical FISH (HTF)
Analysis for detection of recurrent translocations and copy number changes in leukaemia.
Optical Genome Mapping (OGM) - haematological neoplasms (pilot) (HOGM)
Assess the accuracy of your OGM bioinformatic algorithms and pipelines for structural and copy number aberrations in haematological neoplasms.
Haematological Technical FISH (HTF)
Analysis for detection of recurrent translocations and copy number changes in leukaemia.
Myeloid disorders (HMD)
Analysis and interpretation of recurrent and non-recurrent abnormalities associated with myeloid disorders.
Optical Genome Mapping (OGM) - haematological neoplasms (pilot) (HOGM)
Assess the accuracy of your OGM bioinformatic algorithms and pipelines for structural and copy number aberrations in haematological neoplasms.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with primary immunodeficiency.
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.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
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.
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Pharmacogenomics: APOE (pilot) (PGXE)
Molecular testing of the APOE gene.
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
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.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Microdeletion syndromes (GDEL)
FISH and/or DNA analysis for recurrent microdeletion syndromes.
Non-invasive prenatal testing (NIPT) for common microdeletions (NIPTM)
Non-invasive prenatal testing (NIPT) for common microdeletions
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.
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.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
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.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Muscular dystrophies (GMD)
Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Preimplantation genetic testing for monogenic disorders (PGT-M) (PGTM)
PGT for monogenic disorders (Breast cancer - BRCA2).
Genitourinary tract tumours (TGTT) NEW!
Genitourinary tract tumours
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
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.
Breast cancer (TBCP)
Molecular testing of breast cancers for PIK3CA and ESR1 variants in FFPE and cfDNA
Tissue-i (Tumour annotation and assessment) (TI)
Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, and select appropriate tissue areas for molecular testing.
Cystic Fibrosis (CF) and CFTR-related disorders (GCF)
Molecular testing for cystic fibrosis (CF) and CFTR-related 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.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
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)
Cholangiocarcinoma (TCC)
Molecular testing of IDH1, microsatellite instability and FGFR rearrangements in cholangiocarcinoma
Updated: 2026 EQA includes microsatellite instability
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with primary immunodeficiency.
Chronic Lymphocytic Leukaemia (CLL) (HCLLC)
Analysis and interpretation of recurrent and non-recurrent abnormalities associated with chronic lymphocytic leukaemia.
Chronic Lymphocytic Leukaemia (CLL) IGHV mutation status (HCLLI)
Analysis for IGHV mutation status in chronic lymphocytic leukaemia DNA samples.
Chronic Lymphocytic Leukaemia (CLL) TP53 mutation analysis (HCLLT)
Analysis for TP53 mutation status in chronic lymphocytic leukaemia DNA samples.
Optical Genome Mapping (OGM) - haematological neoplasms (pilot) (HOGM)
Assess the accuracy of your OGM bioinformatic algorithms and pipelines for structural and copy number aberrations in haematological neoplasms.
Haematological Technical FISH (HTF)
Analysis for detection of recurrent translocations and copy number changes in leukaemia.
Myeloid disorders (HMD)
Analysis and interpretation of recurrent and non-recurrent abnormalities associated with myeloid disorders.
Optical Genome Mapping (OGM) - haematological neoplasms (pilot) (HOGM)
Assess the accuracy of your OGM bioinformatic algorithms and pipelines for structural and copy number aberrations in haematological neoplasms.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Tissue-i (Tumour annotation and assessment) (TI)
Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, and select appropriate tissue areas for molecular testing.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
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.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
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).
Cystic Fibrosis (CF) and CFTR-related disorders (GCF)
Molecular testing for cystic fibrosis (CF) and CFTR-related disorders.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Muscular dystrophies (GMD)
Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).
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.
Inherited cytopenias (pilot) (GIC) NEW!
Targeted testing for mutations in genes associated with inherited cytopenias. Scenarios could include germline confirmation testing, testing of family members or confirmation of diagnostic results obtained from NGS or WGS panels.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
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.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
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.
Pharmacogenomics: Aminoglycoside ototoxicity (PGXA)
Molecular testing of the MT-RNR1 gene.
Huntington disease (HD) and DRPLA (GHD)
Molecular testing for Huntington disease and DRPLA.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Developmental Delay (GDD)
Interpretation of genetic causes of developmental delay: online case scenario with molecular and cytogenomic test results.
Microdeletion syndromes (GDEL)
FISH and/or DNA analysis for recurrent microdeletion syndromes.
Non-invasive prenatal testing (NIPT) for common microdeletions (NIPTM)
Non-invasive prenatal testing (NIPT) for common microdeletions
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.
Inherited cytopenias (pilot) (GIC) NEW!
Targeted testing for mutations in genes associated with inherited cytopenias. Scenarios could include germline confirmation testing, testing of family members or confirmation of diagnostic results obtained from NGS or WGS panels.
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).
Muscular dystrophies (GMD)
Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).
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.
Inherited cytopenias (pilot) (GIC) NEW!
Targeted testing for mutations in genes associated with inherited cytopenias. Scenarios could include germline confirmation testing, testing of family members or confirmation of diagnostic results obtained from NGS or WGS panels.
Clinical Genetics - dysmorphology (CGD) Newly Accredited
Clinical diagnosis and genetic counselling based on family history and test results: online educational case scenario with multiple stages.
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).
Endometrial tumours (TET)
Molecular testing of endometrial tumours: POLE, TP53, Microsatellite instability (MSI), MLH1 promoter methylation.
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.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Inborn Errors of Metabolism (IEM) (GIEM)
Molecular testing for MCAD deficiency, Fabry disease, galactosaemia and other inborn errors of metabolism.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Familial Hypercholesterolaemia (FH) (GFH)
Molecular testing for Familial hypercholesterolaemia.
Pharmacogenomics: APOE (pilot) (PGXE)
Molecular testing of the APOE gene.
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.
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.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Inherited cytopenias (pilot) (GIC) NEW!
Targeted testing for mutations in genes associated with inherited cytopenias. Scenarios could include germline confirmation testing, testing of family members or confirmation of diagnostic results obtained from NGS or WGS panels.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Fragile X syndrome and FMR1-related disorders (GFRAX)
Molecular testing for FMR1 (CGG)n repeats.
Fragile X syndrome and FMR1-related disorders (GFRAX)
Molecular testing for FMR1 (CGG)n repeats.
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).
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Inborn Errors of Metabolism (IEM) (GIEM)
Molecular testing for MCAD deficiency, Fabry disease, galactosaemia and other inborn errors of metabolism.
Gastrointestinal stromal tumours (GIST) (TGT)
Molecular testing of gastrointestinal stromal tumours: KIT and PDGFRA.
Tissue-i (Tumour annotation and assessment) (TI)
Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, and select appropriate tissue areas for molecular testing.
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
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.
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.
Tissue-i (Tumour annotation and assessment) (TI)
Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, and select appropriate tissue areas for molecular testing.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Pharmacogenomics: Aminoglycoside ototoxicity (PGXA)
Molecular testing of the MT-RNR1 gene.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with primary immunodeficiency.
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.
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)
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
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.
Huntington disease (HD) and DRPLA (GHD)
Molecular testing for Huntington disease and DRPLA.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with primary immunodeficiency.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Pharmacogenomics: APOE (pilot) (PGXE)
Molecular testing of the APOE gene.
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.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
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.
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.
Inherited cytopenias (pilot) (GIC) NEW!
Targeted testing for mutations in genes associated with inherited cytopenias. Scenarios could include germline confirmation testing, testing of family members or confirmation of diagnostic results obtained from NGS or WGS panels.
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Preimplantation genetic testing for aneuploidies (PGT-A) (PGTA)
PGT for the detection of aneuploidy (includes gains and losses of autosomes and/or sex chromosomes).
Rapid prenatal testing for common aneuploidies (RRA)
Analysis and interpretation of aneuploidy and fetal sexing prenatal samples: fixed cell suspensions for interphase FISH and/or DNA for QF-PCR studies.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Neurofibromatosis and rasopathies (GNF)
Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
Muscular dystrophies (GMD)
Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).
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.
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.
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.
Tissue-i (Tumour annotation and assessment) (TI)
Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, and select appropriate tissue areas for molecular testing.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Inborn Errors of Metabolism (IEM) (GIEM)
Molecular testing for MCAD deficiency, Fabry disease, galactosaemia and other inborn errors of metabolism.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
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).
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
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.
Melanoma (TM)
Molecular testing of melanoma.
Solid tumour FISH (TSTF) NEW!
FISH testing for recurrent abnormalities in solid tumours.
Tissue-i (Tumour annotation and assessment) (TI)
Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, and select appropriate tissue areas for molecular testing.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Cholangiocarcinoma (TCC)
Molecular testing of IDH1, microsatellite instability and FGFR rearrangements in cholangiocarcinoma
Updated: 2026 EQA includes microsatellite instability
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.
Microsatellite instability testing (MSI) (TMSI)
Microsatellite instability testing (including BRAF and MLH1 promoter methylation if performed)
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
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.
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.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Haematological Technical FISH (HTF)
Analysis for detection of recurrent translocations and copy number changes in leukaemia.
Myeloid disorders (HMD)
Analysis and interpretation of recurrent and non-recurrent abnormalities associated with myeloid disorders.
Myeloma (HMM)
Analysis and interpretation of recurrent abnormalities associated with myeloma.
Haematological Technical FISH (HTF)
Analysis for detection of recurrent translocations and copy number changes in leukaemia.
Myeloid disorders (HMD)
Analysis and interpretation of recurrent and non-recurrent abnormalities associated with myeloid disorders.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Hypotonic Infant (GHI)
Molecular and cytogenomic testing for DM1, PWS and SMA.
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.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Lymphoma (HLYM)
Analysis and interpretation of recurrent and non-recurrent abnormalities associated with lymphoma.
Updated: Includes Lymphoma Technical FISH
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.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
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.
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.
Inborn Errors of Metabolism (IEM) (GIEM)
Molecular testing for MCAD deficiency, Fabry disease, galactosaemia and other inborn errors of metabolism.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
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.
Homologous recombination repair (HRD) testing (THRD)
HRD testing in ovarian cancer.
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
Tissue-i (Tumour annotation and assessment) (TI)
Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, and select appropriate tissue areas for molecular testing.
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.
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with hereditary breast and ovarian cancer including BRCA1 and BRCA2.
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.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Respiratory disorders (GRESP)
Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
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.
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Hypotonic Infant (GHI)
Molecular and cytogenomic testing for DM1, PWS and SMA.
Microdeletion syndromes (GDEL)
FISH and/or DNA analysis for recurrent microdeletion syndromes.
Non-invasive prenatal testing (NIPT) for common microdeletions (NIPTM)
Non-invasive prenatal testing (NIPT) for common microdeletions
Fragile X syndrome and FMR1-related disorders (GFRAX)
Molecular testing for FMR1 (CGG)n repeats.
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.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
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.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Parathyroid and Calcium Regulation disorders (GCAL)
Molecular testing for hypercalcaemia and hypocalcaemia.
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.
Genitourinary tract tumours (TGTT) NEW!
Genitourinary tract tumours
Solid tumour FISH (TSTF) NEW!
FISH testing for recurrent abnormalities in solid tumours.
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
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.
Epilepsy disorders (GEP)
Molecular testing for disorders associated with early onset or syndromic epilepsy (including Rett syndrome, Tuberous sclerosis and Dravet syndrome).
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Tissue-i (Tumour annotation and assessment) (TI)
Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, and select appropriate tissue areas for molecular testing.
Neurofibromatosis and rasopathies (GNF)
Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with primary immunodeficiency.
SCID Molecular Newborn Screening (bloodspots) (NBST1) Newly Accredited
Molecular testing of newborn screening cards for TREC levels associated with Severe Combined Immunodeficiency (SCID).
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.
Inherited cytopenias (pilot) (GIC) NEW!
Targeted testing for mutations in genes associated with inherited cytopenias. Scenarios could include germline confirmation testing, testing of family members or confirmation of diagnostic results obtained from NGS or WGS panels.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
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.
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).
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).
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Sarcoma (TSA)
Testing for the detection of recurrent abnormalities associated with sarcomas in Formalin-fixed paraffin-embedded (FFPE) tissue sections.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Thyroid cancer (TT)
Testing for somatic small nucelotide variants in thryoid cancer.
Tissue-i (Tumour annotation and assessment) (TI)
Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, and select appropriate tissue areas for molecular testing.
Rapid prenatal testing for common aneuploidies (RRA)
Analysis and interpretation of aneuploidy and fetal sexing prenatal samples: fixed cell suspensions for interphase FISH and/or DNA for QF-PCR studies.
Preimplantation genetic testing for aneuploidies (PGT-A) (PGTA)
PGT for the detection of aneuploidy (includes gains and losses of autosomes and/or sex chromosomes).
Rapid prenatal testing for common aneuploidies (RRA)
Analysis and interpretation of aneuploidy and fetal sexing prenatal samples: fixed cell suspensions for interphase FISH and/or DNA for QF-PCR studies.
Preimplantation genetic testing for aneuploidies (PGT-A) (PGTA)
PGT for the detection of aneuploidy (includes gains and losses of autosomes and/or sex chromosomes).
Preimplantation genetic testing for aneuploidies (PGT-A) (PGTA)
PGT for the detection of aneuploidy (includes gains and losses of autosomes and/or sex chromosomes).
Rapid prenatal testing for common aneuploidies (RRA)
Analysis and interpretation of aneuploidy and fetal sexing prenatal samples: fixed cell suspensions for interphase FISH and/or DNA for QF-PCR studies.
Preimplantation genetic testing for aneuploidies (PGT-A) (PGTA)
PGT for the detection of aneuploidy (includes gains and losses of autosomes and/or sex chromosomes).
Rapid prenatal testing for common aneuploidies (RRA)
Analysis and interpretation of aneuploidy and fetal sexing prenatal samples: fixed cell suspensions for interphase FISH and/or DNA for QF-PCR studies.
Epilepsy disorders (GEP)
Molecular testing for disorders associated with early onset or syndromic epilepsy (including Rett syndrome, Tuberous sclerosis and Dravet syndrome).
Renal disorders (GREN)
Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.
Infertility (GINF)
Molecular and cytogenomic testing for infertility.
Preimplantation genetic testing for aneuploidies (PGT-A) (PGTA)
PGT for the detection of aneuploidy (includes gains and losses of autosomes and/or sex chromosomes).
Rapid prenatal testing for common aneuploidies (RRA)
Analysis and interpretation of aneuploidy and fetal sexing prenatal samples: fixed cell suspensions for interphase FISH and/or DNA for QF-PCR studies.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Inborn Errors of Metabolism (IEM) (GIEM)
Molecular testing for MCAD deficiency, Fabry disease, galactosaemia and other inborn errors of metabolism.
Tissue-i (Tumour annotation and assessment) (TI)
Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, and select appropriate tissue areas for molecular testing.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
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.
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Microdeletion syndromes (GDEL)
FISH and/or DNA analysis for recurrent microdeletion syndromes.
Non-invasive prenatal testing (NIPT) for common microdeletions (NIPTM)
Non-invasive prenatal testing (NIPT) for common microdeletions
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Infertility (GINF)
Molecular and cytogenomic testing for infertility.
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