GenQA offer >120 genomics EQA covering thirteen different disciplines, encompassing the sample and patient journey.
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Genomic and Inherited Disorders
Overview:
GenQA has been providing EQAs for genomic and inherited disorders since 1982, and our repertoire has grown into >30 EQAs covering a wide range of genetic disorders/conditions reflecting the expansion of genomic testing across laboratory medicine. These are suitable for cytogenomic and/or molecular testing and participants can tailor their EQA participation by opting in or out of cases depending on the scope of testing offered by their laboratory.
For molecular testing only, GenQA offers EQA for a comprehensive coverage of genomic disorders, from targeted hot spot mutation testing to wider NGS panel testing for a range of related disorders. For cytogenomic analysis, GenQA offers postnatal karyotyping and CNV detection, microdeletion syndromes and chromosome instability syndromes. In addition, GenQA is unique in offering Clinical Pathway EQAs including the analysis and interpretation of sample or online molecular and/or cytogenomic tests.
These EQAs are supported by our suite of Variant Classification and Nomenclature EQAs for ISCN and CNV / SNV classification and/or interpretation. Please also see the Individual Competency Assessment page for details about GENie, the specialist genomic education and assessment tool for individual competency, which includes modules for Variant Classification and Nomenclature.
Summary Information:
Assess testing and reporting of different genomic and inherited disorders, using various sample types and/or online case scenarios e.g. diagnostic and carrier testing.
- EQAs delivered in accordance with the international standard ISO 17043 for proficiency testing providers.
- Suitable for molecular and/or cytogenomic techniques
- Based on real clinical cases, using validated samples.
- The scope of each EQA may include multiple disorders/genes and the cases supplied will rotate across the EQA years.
- 6-16 weeks to submit results
- Submitted laboratory reports are assessed, by an expert scientific panel, using international guidelines/recommendations.
- Each participant receives an Individual Laboratory Report (ILR) and EQA summary report detailing general findings, a summary of methodologies used, common errors and benchmarking against other laboratories worldwide.
Offers:
Enrol in 10 Genomic and Inherited disorders accredited EQAs - save £100!
Enrol in 15 Genomic and Inherited disorders accredited EQAs - save £250!
Enrol in 20 Genomic and Inherited disorders accredited EQAs - save £500!
Ataxia & Hereditary Spastic Paraplegia (HSP) (GATAX)
Molecular testing for adult onset and childhood onset hereditary ataxias (including Friedreich ataxia, Spinocerebellar ataxia and hereditary spastic paraplegia).
Cardiac disorders (GCARD)
Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.
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)
Chromosome instability syndromes (GCI)
Molecular and/or cytogenomic testing for chromosome breakage or instability.
Cystic Fibrosis (CF) and CFTR-related disorders (GCF)
Molecular testing for cystic fibrosis (CF) and CFTR-related disorders.
Developmental Delay (GDD)
Interpretation of genetic causes of developmental delay: online case scenario with molecular and cytogenomic test results.
Differences in Sex Development (DSD) (GDSD)
Molecular and cytogenomic testing for differences in sex development (DSD).
Epilepsy disorders (GEP)
Molecular testing for disorders associated with early onset or syndromic epilepsy (including Rett syndrome, tuberous sclerosis and Dravet syndrome).
Eye disorders (GEYE)
Molecular testing for retinopathies, structural eye disorders, optic atrophy, cataracts and albinism.
Familial colorectal cancer and polyposis (GCRC)
Molecular testing for Lynch syndrome, Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Familial endocrine tumour predisposition disorders (GEND)
Molecular testing for MEN1, MEN2, VHL and FMTC disorders.
Familial Hypercholesterolaemia (FH) (GFH)
Molecular testing for Familial hypercholesterolaemia.
Fragile X syndrome and FMR1-related disorders (GFRAX)
Molecular testing for FMR1 (CGG)n repeats.
Gastroenterology and hepatology disorders (GGH)
Molecular testing for Hereditary Pancreatitis, Gilbert syndrome, Cholestasis, Hirschsprung disease, Polycystic liver disease and Intestinal failure.
Hereditary Breast and Ovarian Cancer (HBOC) disorders (GHBOC)
Molecular testing for disorders associated with HBOC.
Huntington disease (HD) and DRPLA (GHD)
Molecular testing for Huntington disease and DRPLA.
Hypotonic Infant (GHI)
Molecular and cytogenomic testing for DM1, PWS and SMA.
Imprinting disorders (GIM)
Molecular and cytogenomic testing for disorders associated with imprinting.
Inborn Errors of Metabolism (IEM) (GIEM)
Molecular testing for IEM including MCAD deficiency, Fabry disease, Galactosaemia, Lysosomal storage disease, urea cycle defects.
Infertility (GINF)
Molecular and cytogenomic testing for infertility.
Interpretation of RNA splicing variants (GRNA)
Interpretation of RNA analysis results to investigate the pathogenicity of splicing variants. Submit a clinical report.
Microdeletion syndromes (GDEL)
FISH and/or DNA analysis for recurrent microdeletion syndromes.
Mitochondrial disease (GMT)
Molecular testing for mitochondrial disease.
Muscular dystrophies (GMD)
Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).
Neurodegenerative disorders (GND)
Molecular testing for dementia, Parkinson disease, Spinal Bulbar muscular atrophy and Amyotrophic lateral sclerosis (ALS).
Neurofibromatosis and rasopathies (GNF)
Molecular testing for Neurofibromatosis type 1 / type 2 and Noonan syndrome.
Parathyroid and Calcium Regulation disorders (GCAL)
Case scenario for hypercalcaemia and hypocalcaemia.
Postnatal constitutional Copy Number Variant (CNV) detection (GCNV)
Analysis and interpretation of copy number changes in postnatal samples: DNA for array or NGS studies.
Postnatal karyotyping (GPK)
Karyotype analysis of postnatal blood samples.
Primary Immunodeficiency disorders (PID) (GPID)
Molecular testing for disorders associated with PID.
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.
Skeletal dysplasia (including Osteogenesis Imperfecta) (GSKEL)
Molecular testing for FGFR2 and FGFR3-related disorders, osteogenesis imperfecta and other skeletal dysplasias.
Trio Sequencing - Postnatal (neonatal and paediatric) (GEXO)
Trio sequencing analysis for a postnatal scenario. (Previously Exome sequencing trio - postnatal)
Updated: Previously called 'Exome Sequencing (trio) Postnatal (neonatal and paediatric)'
Variant Validation (GVAL)
Validation of variant(s) detected on a research basis. May also include family follow-up studies.
X-inactivation (GXI)
Determination of X-inactivation ratios.
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