EQA Disorders

Genomic medicine is constantly evolving therefore if you do not find your disorder/condition of interest please contact info@genqa.org

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21-hydroxylase deficiency (21-OH)

Differences in Sex Development (DSD) (GDSD)

Molecular and cytogenomic testing for differences in sex development (DSD).

5-alpha-reductase deficiency

Differences in Sex Development (DSD) (GDSD)

Molecular and cytogenomic testing for differences in sex development (DSD).

Achondrogenesis

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Achondroplasia

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Acute lymphoblastic leukaemia (ALL)

Acute Lymphoblastic Leukaemia (ALL) (HALL)

Analysis and interpretation of recurrent and non-recurrent abnormalities associated with acute lymphoblastic leukaemia: online G-banded analysis with supplementary tests as applicable and/or DNA for whole genome copy number changes and structural rearrangements.

Haematological Technical FISH (HTF)

Analysis for detection of recurrent translocations and copy number changes in leukaemia: fixed cell suspensions for interphase FISH studies.

Acute myeloid leukaemia (AML)

Haematological Technical FISH (HTF)

Analysis for detection of recurrent translocations and copy number changes in leukaemia: fixed cell suspensions for interphase FISH studies.

Myeloid disorders (HMD)

Analysis and interpretation of recurrent and non-recurrent abnormalities associated with myeloid disorders: online G-banded analysis with supplementary tests as applicable and/or DNA for whole genome copy number changes and structural rearrangements in MDS.

Adrenal cortical carcinoma

Thyroid cancer (TT)

Testing for somatic small nucelotide variants in thryoid cancer.

Agammaglobulinaemia

Primary Immunodeficiency disorders (PID) (GPID)

Molecular testing for disorders associated with PID.

Albinism

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Albright hereditary osteodystrophy (AHO)

Parathyroid and Calcium Regulation disorders (GCAL)

Case scenario for hypercalcaemia and hypocalcaemia.

Alport syndrome

Renal disorders (GREN)

Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.

Alveolar Capillary dysplasia

Respiratory disorders (GRESP)

Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.

Alveolar rhabdomyosarcoma

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Alveolar soft part sarcoma

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Alzheimer disease

Neurodegenerative disorders (GND)

Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).

Amyotrophic lateral sclerosis (ALS)

Neurodegenerative disorders (GND)

Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).

Anaplastic thyroid carcinoma

Thyroid cancer (TT)

Testing for somatic small nucelotide variants in thryoid cancer.

Androgen insensitivity syndrome (AIS)

Differences in Sex Development (DSD) (GDSD)

Molecular and cytogenomic testing for differences in sex development (DSD).

Aneurysmal bone cysts

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Angelman syndrome (AS)

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

Aniridia

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Anophthalmia

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Apert syndrome

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Arrhythmia

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Arrhythmogenic ventricular cardiomyopathies

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Astrocytoma

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.

Ataxia telangiectasia

Chromosome instability syndromes (GCI)

Molecular and/or cytogenomic testing for chromosome breakage or instability.

Bartter syndrome

Renal disorders (GREN)

Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.

Becker muscular dystrophy (BMD)

Muscular dystrophies (GMD)

Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).

Beckwith Wiedemann syndrome (BWS)

Imprinting disorders (GIM)

Molecular and cytogenomic testing for disorders associated with imprinting.

Beta thalassaemia

Preimplantation genetic testing for monogenic disorders (PGT-M) (PGTM)

PGT for monogenic disorders (Cystic Fibrosis).

Bloom syndrome

Chromosome instability syndromes (GCI)

Molecular and/or cytogenomic testing for chromosome breakage or instability.

Breast 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.

Breast cancer (TBCP)

Molecular testing of breast cancers for PIK3CA and ESR1 variants in FFPE and cfDNA

Breast cancer - tumour expression profiling (pilot) (TEP)

Gene expression profiling in breast cancers to determine prognosis.

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.

Bronchiectasis

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.

Brugada syndrome

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Campomelic dysplasia

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Cataracts disorders

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Charcot Marie Tooth disease (CMT)

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

Cholangiocarcinoma (TCC)

Molecular testing of IDH1 and FGFR rearrangements in cholangiocarcinoma

Cholestasis

Gastroenterology and hepatology disorders (GGH)

Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.

Chronic granulomatous disease

Primary Immunodeficiency disorders (PID) (GPID)

Molecular testing for disorders associated with PID.

Chronic lymphocytic leukaemia (CLL)

Chronic Lymphocytic Leukaemia (CLL) (HCLLC)

Analysis and interpretation of recurrent and non-recurrent abnormalities associated with chronic lymphocytic leukaemia: online G-banded analysis with supplementary tests as applicable and/or fixed cell suspensions for interphase FISH studies and/or DNA for whole genome copy number changes and structural rearrangements.

Chronic Lymphocytic Leukaemia (CLL) IGHV mutation status (HCLLI)

Analysis for IGHV mutation status in chronic lymphocytic leukaemia samples: DNA and lyophilised cells.

Chronic Lymphocytic Leukaemia (CLL) TP53 mutation analysis (HCLLT)

Analysis for TP53 mutation status in chronic lymphocytic leukaemia DNA samples.

Chronic myeloid leukaemia (CML)

Haematological Technical FISH (HTF)

Analysis for detection of recurrent translocations and copy number changes in leukaemia: fixed cell suspensions for interphase FISH studies.

Myeloid disorders (HMD)

Clear cell sarcoma

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

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.

Coloboma

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Colorectal 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, PLD1, MLH1, 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

Cone/cone-rod dystrophies

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Congenital adrenal hyperplasia (CAH)

Differences in Sex Development (DSD) (GDSD)

Molecular and cytogenomic testing for differences in sex development (DSD).

Congenital adrenal hypoplasia (AHC)

Differences in Sex Development (DSD) (GDSD)

Molecular and cytogenomic testing for differences in sex development (DSD).

Congenital bilateral absence of the vas deferens (CBAVD)

Cystic Fibrosis (CF) and CFTR-related disorders (GCF)

Molecular testing for cystic fibrosis (CF) and CFTR-related disorders.

Congenital central hypoventilation syndrome (CCHS)

Respiratory disorders (GRESP)

Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.

Congenital muscular dystrophy (CMD)

Muscular dystrophies (GMD)

Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).

Cornelia de Lange syndrome

Chromosome instability syndromes (GCI)

Molecular and/or cytogenomic testing for chromosome breakage or instability.

Cowden syndrome

Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)

Molecular testing for disorders associated with HBOC.

Crouzon syndrome

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Cystic fibrosis (CF)

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.

Deafness

Pharmacogenomics: Aminoglycoside ototoxicity (PGXA)

Molecular testing of the MT-RNR1 gene.

Dentatorubral-pallidoluysian atrophy (DRPLA)

Huntington disease (HD) and DRPLA (GHD)

Molecular testing for Huntington disease and DRPLA.

Desmoplastic small cell tumour

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Di-George syndrome

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

Dilated cardiomyopathy (DCM)

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Dravet syndrome

Epilepsy disorders (GEP)

Molecular testing for disorders associated with early onset or syndromic epilepsy (including Rett syndrome, tuberous sclerosis and Dravet syndrome).

Duchenne muscular dystrophy (DMD)

Muscular dystrophies (GMD)

Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).

Ehlers Danlos syndrome (EDS)

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Emery Dreifuss muscular dystrophy (EDMD)

Muscular dystrophies (GMD)

Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).

Endometrial cancer

Endometrial tumours (TET)

Molecular testing of endometrial tumours: POLE, TP53, Microsatellite instability (MSI), MLH1 promoter methylation.

Endometrial stromal tumours

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Ewings sarcoma

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Extra-skeletal chondrosarcomas

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Fabry disease

Inborn Errors of Metabolism (IEM) (GIEM)

Molecular testing for IEM including MCAD deficiency, Fabry disease, Galactosaemia, Lysosomal storage disease, urea cycle defects.

Familial adenomatous polyposis (FAP)

Familial colorectal cancer and polyposis (GCRC)

Molecular testing for Lynch syndrome, Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).

Familial breast and ovarian cancer

Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)

Molecular testing for disorders associated with HBOC.

Familial Hypercholesterolaemia

Familial Hypercholesterolaemia (FH) (GFH)

Molecular testing for Familial hypercholesterolaemia.

Familial medullary thyroid carcinoma (FMTC)

Familial endocrine tumour predisposition disorders (GEND)

Molecular testing for MEN1, MEN2, VHL and FMTC disorders.

Familial paraganglioma and phaeochromocytoma

Familial endocrine tumour predisposition disorders (GEND)

Molecular testing for MEN1, MEN2, VHL and FMTC disorders.

Familial parathyroid carcinoma

Familial endocrine tumour predisposition disorders (GEND)

Molecular testing for MEN1, MEN2, VHL and FMTC disorders.

Fanconi anaemia

Chromosome instability syndromes (GCI)

Molecular and/or cytogenomic testing for chromosome breakage or instability.

Fibromyxoid sarcoma (low-grade)

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Focal segmental glomerulosclerosis (FSGS)

Renal disorders (GREN)

Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.

Fragile X syndrome

Fragile X syndrome and FMR1-related disorders (GFRAX)

Molecular testing for FMR1 (CGG)n repeats.

Fragile X-associated tremor/ataxia syndrome (FXTAS)

Fragile X syndrome and FMR1-related disorders (GFRAX)

Molecular testing for FMR1 (CGG)n repeats.

Friedreich ataxia

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).

Frontotemporal dementia

Neurodegenerative disorders (GND)

Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).

Galactosaemia

Inborn Errors of Metabolism (IEM) (GIEM)

Molecular testing for IEM including MCAD deficiency, Fabry disease, Galactosaemia, Lysosomal storage disease, urea cycle defects.

Gastrointestinal stromal tumours (GIST)

Gastrointestinal stromal tumours (GIST) (TGT)

Molecular testing of gastrointestinal stromal tumours: KIT and PDGFRA.

Gastrointestinal tract 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.

Gilbert syndrome

Gastroenterology and hepatology disorders (GGH)

Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.

Gitelman syndrome

Renal disorders (GREN)

Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.

Glioblastoma

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.

Glioma

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.

Gynaecological 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.

Haematuria

Renal disorders (GREN)

Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.

Hearing loss

Pharmacogenomics: Aminoglycoside ototoxicity (PGXA)

Molecular testing of the MT-RNR1 gene.

Hereditary angioedema

Primary Immunodeficiency disorders (PID) (GPID)

Molecular testing for disorders associated with PID.

Hereditary ataxia

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).

Hereditary Haemorrhagic Telangiectasia (HHT)

Respiratory disorders (GRESP)

Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.

Hereditary Neuropathies with Liabilities to Pressure Palsies (HNPP)

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)

Hereditary Non-polyposis colon cancer (HNPCC)

Familial colorectal cancer and polyposis (GCRC)

Molecular testing for Lynch syndrome, Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).

Hereditary pancreatitis

Gastroenterology and hepatology disorders (GGH)

Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.

Hereditary spastic paraplegia (HSP)

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).

Hirschsprung disease

Gastroenterology and hepatology disorders (GGH)

Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.

Huntington disease (HD)

Huntington disease (HD) and DRPLA (GHD)

Molecular testing for Huntington disease and DRPLA.

Hyper IgE syndrome

Primary Immunodeficiency disorders (PID) (GPID)

Molecular testing for disorders associated with PID.

Hypercalcinaemia

Parathyroid and Calcium Regulation disorders (GCAL)

Case scenario for hypercalcaemia and hypocalcaemia.

Hypertrophic cardiomyopathy (HCM)

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Hypocalcaemia

Parathyroid and Calcium Regulation disorders (GCAL)

Case scenario for hypercalcaemia and hypocalcaemia.

Hypocalciuric hypercalcaemia

Parathyroid and Calcium Regulation disorders (GCAL)

Case scenario for hypercalcaemia and hypocalcaemia.

Hypochondroplasia

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Hypoparathyroidism, familial

Parathyroid and Calcium Regulation disorders (GCAL)

Case scenario for hypercalcaemia and hypocalcaemia.

ICF (immunodeficiency, centromeric instability, facial anomalies) syndrome

Chromosome instability syndromes (GCI)

Molecular and/or cytogenomic testing for chromosome breakage or instability.

Intestinal failure

Gastroenterology and hepatology disorders (GGH)

Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.

Isolated hyperparathyroidism

Parathyroid and Calcium Regulation disorders (GCAL)

Case scenario for hypercalcaemia and hypocalcaemia.

Kearns-Sayre syndrome

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Klinefelter syndrome

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.

Leber congenital amaurosis

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Leber's hereditary optic neuropathy (LHON)

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Legius syndrome

Neurofibromatosis and rasopathies (GNF)

Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.

Leigh syndrome

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Li-Fraumeni syndrome

Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)

Molecular testing for disorders associated with HBOC.

Limb girdle muscular dystrophy (LGMD)

Muscular dystrophies (GMD)

Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).

Liposarcoma

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Loeys Dietz syndrome

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Long QT syndrome

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Lung cancer

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 (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.

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.

Lynch syndrome

Familial colorectal cancer and polyposis (GCRC)

Molecular testing for Lynch syndrome, Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).

Lysosomal storage disease

Inborn Errors of Metabolism (IEM) (GIEM)

Molecular testing for IEM including MCAD deficiency, Fabry disease, Galactosaemia, Lysosomal storage disease, urea cycle defects.

m.3243A>G related disorders

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Machado-Joseph disease (MJD)

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).

Macular degeneration

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Marfan syndrome (MFS)

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Maternally inherited diabetes and deafness (MIDD)

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

Inborn Errors of Metabolism (IEM) (GIEM)

Molecular testing for IEM including MCAD deficiency, Fabry disease, Galactosaemia, Lysosomal storage disease, urea cycle defects.

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

Melanoma (TM)

Molecular testing of melanoma.

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.

Metaphyseal dysplasia

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Microphthalmia

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Microsatellite instability (MSI)

Colorectal cancer - MMR (MSI) (TCMMR)

Molecular testing of colorectal cancer: KRAS, NRAS, BRAF, PLD1, MLH1, 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.

Microsatellite instability testing (MSI) (TMSI)

Microsatellite instability testing (including BRAF and MLH1 promoter methylation if performed)

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Mosaic variegated aneuploidy

Chromosome instability syndromes (GCI)

Molecular and/or cytogenomic testing for chromosome breakage or instability.

mtDNA deletion disorders

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Muenke syndrome

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Multiple Endocrine Neoplasia type 1 (MEN1)

Familial endocrine tumour predisposition disorders (GEND)

Molecular testing for MEN1, MEN2, VHL and FMTC disorders.

Multiple endocrine neoplasia type 2A (MEN2A)

Familial endocrine tumour predisposition disorders (GEND)

Molecular testing for MEN1, MEN2, VHL and FMTC disorders.

Multiple endocrine neoplasia type 2B (MEN2B)

Familial endocrine tumour predisposition disorders (GEND)

Molecular testing for MEN1, MEN2, VHL and FMTC disorders.

Multiple Endocrine Neoplasia type 4 (MEN4)

Familial endocrine tumour predisposition disorders (GEND)

Molecular testing for MEN1, MEN2, VHL and FMTC disorders.

Mutliple epiphyseal dysplasia

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

MUTYH-associated polyposis (MAP)

Familial colorectal cancer and polyposis (GCRC)

Molecular testing for Lynch syndrome, Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).

Myelodysplastic syndromes (MDS)

Haematological Technical FISH (HTF)

Analysis for detection of recurrent translocations and copy number changes in leukaemia: fixed cell suspensions for interphase FISH studies.

Myeloid disorders (HMD)

Myeloma

Myeloma (HMM)

Analysis and interpretation of recurrent abnormalities associated with myeloma: online interphase FISH analysis with supplementary tests as applicable, and/or fixed cell suspensions for interphase FISH, or DNA for array or NGS studies.

Myeloproliferative neoplasms (MPN)

Haematological Technical FISH (HTF)

Analysis for detection of recurrent translocations and copy number changes in leukaemia: fixed cell suspensions for interphase FISH studies.

Myeloid disorders (HMD)

Myoclonic epilepsy with ragged red fibers (MERRF) syndrome

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Myotonic dystrophy type 1 (DM1)

Hypotonic Infant (GHI)

Molecular and cytogenomic testing for DM1, PWS and SMA.

Neurofibromatosis type 1 (NF1)

Neurofibromatosis and rasopathies (GNF)

Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.

Neurofibromatosis type 2 (NF2)

Neurofibromatosis and rasopathies (GNF)

Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.

Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Nijmegen syndrome

Chromosome instability syndromes (GCI)

Molecular and/or cytogenomic testing for chromosome breakage or instability.

Nodular fasciitis

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Non-Hodgkin lymphoma

Lymphoma (HLYM)

Analysis and interpretation of recurrent and non-recurrent abnormalities associated with lymphoma: online G-banded analysis with supplementary tests as applicable and/or FFPE slides and/or fixed cell suspensions for interphase FISH studies.

Lymphoma Technical NGS (pilot) (HLYT)

Next Generation Sequencing (NGS) analysis for detection of clinically relevant structural changes, copy number changes and single nucleotide variants associated with Lymphoma. The lymphoma samples provided will be either diagnostic primary samples, or infiltrated staging samples (where primary samples are not available).

Non-syndromic aortopathy

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Noonan syndrome

Neurofibromatosis and rasopathies (GNF)

Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.

Oculocutaneous albinism

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Oligodendroglioma

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.

Optic atrophy

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Optic neuropathy

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Ornithine transcarbamylase deficiency (OTC)

Inborn Errors of Metabolism (IEM) (GIEM)

Molecular testing for IEM including MCAD deficiency, Fabry disease, Galactosaemia, Lysosomal storage disease, urea cycle defects.

Osteogenesis imperfecta

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Ovarian 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.

Paediatric cardiomyopathy

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Paediatric 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.

Pancreatic 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.

Parkinson disease

Neurodegenerative disorders (GND)

Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).

Pearson syndrome

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Peutz-Jegher syndrome (PJS)

Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)

Molecular testing for disorders associated with HBOC.

Pfeiffer syndrome

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Phaemochromocytoma

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.

Pneumothorax

Respiratory disorders (GRESP)

Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.

POLG-related mtDNA depletion syndrome

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

POLG-related mtDNA maintenance disorders

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Polycystic kidney disease, autosomal dominant (ADPKD)

Renal disorders (GREN)

Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.

Polycystic kidney disease, autosomal recessive (ARPKD)

Renal disorders (GREN)

Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.

Polycystic liver disease

Gastroenterology and hepatology disorders (GGH)

Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.

Prader Willi syndrome (PWS)

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

Premature ovarian failure (POF)

Fragile X syndrome and FMR1-related disorders (GFRAX)

Molecular testing for FMR1 (CGG)n repeats.

Primary ciliary dyskinesia

Respiratory disorders (GRESP)

Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.

Progressive cardiac conduction disease

Cardiac Disorders (GCARD)

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

Progressive external ophthalmoplegia (PEO)

Mitochondrial disease (GMT)

Molecular testing for mitochondrial disease.

Prostate 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.

Pseudoachondroplasia

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Pseudohypoparathyroidism

Parathyroid and Calcium Regulation disorders (GCAL)

Case scenario for hypercalcaemia and hypocalcaemia.

Pseudopseudohypoparathyroidism

Parathyroid and Calcium Regulation disorders (GCAL)

Case scenario for hypercalcaemia and hypocalcaemia.

Pulmonary arterial disease (PAH)

Respiratory disorders (GRESP)

Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.

Renal tubular acidosis

Renal disorders (GREN)

Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.

Respiratory insufficiency

Respiratory disorders (GRESP)

Molecular testing for pneumothorax, respiratory insufficiency / bronchiectasis (ciliopathies/PCD and surfactants), pulmonary arterial hypertension.

Retinitis pigmentosa

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Rett syndrome

Epilepsy disorders (GEP)

Molecular testing for disorders associated with early onset or syndromic epilepsy (including Rett syndrome, tuberous sclerosis and Dravet syndrome).

Roberts syndrome

Chromosome instability syndromes (GCI)

Molecular and/or cytogenomic testing for chromosome breakage or instability.

Sarcoma

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

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.

Schwannomatosis

Neurofibromatosis and rasopathies (GNF)

Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.

Sclerosing epitheliod sarcoma

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Seckel syndrome

Chromosome instability syndromes (GCI)

Molecular and/or cytogenomic testing for chromosome breakage or instability.

Severe Combined Immunodeficiency (SCID)

Primary Immunodeficiency disorders (PID) (GPID)

Molecular testing for disorders associated with PID.

SCID Molecular Newborn Screening (bloodspots) (NBST1)

Molecular testing of newborn screening cards for TREC levels associated with Severe Combined Immunodeficiency (SCID).

Silver Russell syndrome (SRS)

Imprinting disorders (GIM)

Molecular and cytogenomic testing for disorders associated with imprinting.

Spinal bulbar muscular atrophy (SBMA)

Neurodegenerative disorders (GND)

Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).

Spinal Muscular Atrophy (SMA)

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.

Spinocerebellar ataxia (SCA)

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).

Spinocerebellar ataxia type 1 (SCA1)

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).

Spinocerebellar ataxia type 17 (SCA17)

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).

Spinocerebellar ataxia type 2 (SCA2)

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).

Spinocerebellar ataxia type 3 (SCA3)

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).

Spinocerebellar ataxia type 6 (SCA6)

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).

Spinocerebellar ataxia type 7 (SCA7)

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).

Spondylometaphyseal dysplasia

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Stargardt disease

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Synovial sarcoma

Sarcoma (TSA)

Testing for the detection of recurrent abnormalities associated with sarcomas in FFPE.

Temple syndrome

Imprinting disorders (GIM)

Molecular and cytogenomic testing for disorders associated with imprinting.

Thanatophoric Dysplasia

Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)

Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.

Thyroid follicular carcinoma

Thyroid cancer (TT)

Testing for somatic small nucelotide variants in thryoid cancer.

Thyroid medullary carcinoma

Thyroid cancer (TT)

Testing for somatic small nucelotide variants in thryoid cancer.

Thyroid papillary carcinoma

Thyroid cancer (TT)

Testing for somatic small nucelotide variants in thryoid cancer.

Thyroid 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.

Triploidy

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.

Trisomy 13 (Patau syndrome)

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.

Trisomy 15

Preimplantation genetic testing for aneuploidies (PGT-A) (PGTA)

PGT for the detection of aneuploidy (includes gains and losses of autosomes and/or sex chromosomes).

Trisomy 18 (Edwards syndrome)

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.

Trisomy 21 (Down syndrome)

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.

Tuberous sclerosis (TSC)

Epilepsy disorders (GEP)

Molecular testing for disorders associated with early onset or syndromic epilepsy (including Rett syndrome, tuberous sclerosis and Dravet syndrome).

Tubulointerstitial kidney disease, autosomal dominant (ADTKD)

Renal disorders (GREN)

Molecular testing for haematuria, tubulointerstitial kidney disease, cystic renal disease, proteinuric renal disease and renal tubulopathies.

Turner syndrome

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.

Uniparental disomy 11 (UPD11)

Imprinting disorders (GIM)

Molecular and cytogenomic testing for disorders associated with imprinting.

Uniparental disomy 14 (UPD14)

Imprinting disorders (GIM)

Molecular and cytogenomic testing for disorders associated with imprinting.

Uniparental disomy 15 (UPD15)

Imprinting disorders (GIM)

Molecular and cytogenomic testing for disorders associated with imprinting.

Uniparental disomy 7 (UPD7)

Imprinting disorders (GIM)

Molecular and cytogenomic testing for disorders associated with imprinting.

Urea cycle disorders

Inborn Errors of Metabolism (IEM) (GIEM)

Molecular testing for IEM including MCAD deficiency, Fabry disease, Galactosaemia, Lysosomal storage disease, urea cycle defects.

Urological cancers

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.

Usher syndrome

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Von-Hippel-Lindau disease (VHL)

Familial endocrine tumour predisposition disorders (GEND)

Molecular testing for MEN1, MEN2, VHL and FMTC disorders.

WAGR syndrome

Eye Disorders (GEYE)

Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.

Williams syndrome

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

Wilms tumour

Imprinting disorders (GIM)

Molecular and cytogenomic testing for disorders associated with imprinting.

Y microdeletion

Infertility (GINF)

Molecular and cytogenomic testing for infertility.

Genomic disorders/conditions