East Genomics

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External Quality Assessment

The department is registered with the EQA schemes listed below and participates in all rounds available covering our scope of service. This may include:

UK NEQAS: United Kingdom national external quality assessment schemes
  • Acute Myeloid Leukaemia Gene Panels (Pilot) Leucocyte Immunophenotyping
  • BCR-ABL1 and AML Translocations Identification: Leucocyte Immunophenotyping
  • BCR-ABL1 Kinase Domain Variant (Mutation) Status: Leucocyte Immunophenotyping
  • Major BCR-ABL1 Quantification: Leucocyte Immunophenotyping
  • Chronic Lymphocytic Leukaemia Gene Panels
  • FLT3 Mutation Status: Leucocyte Immunophenotyping
  • JAK2 p.Val617Phe (V617F) Mutation Status: Leucocyte Immunophenotyping
  • KIT p.Asp816Val (D816V) Mutation Status for Mast Cell Disease
  • Lymphoplasmacytic Lymphoma / Waldenstrom Macroglobulinaemia
  • Myeloproliferative Neoplasms Gene Panels
  • NPM1 Mutation Status (for HRM assay - diagnosis)
  • Paediatric Acute Leukaemia Translocations: Leucocyte Immunophenotyping
  • Post-SCT Chimerism Monitoring: Leucocyte Immunophenotyping
  • Full Blood Count (for white cell counts)
Genomics Quality Assessment (GenQA) 2021-2022 schemes
  • Acquired array (CLL and MDS) - Array
  • Chronic Lymphocytic Leukaemia (CLL) (previously Mature B & T FISH & Mature B & T G-band)
  • Colorectal cancer option 3 extended MMR
  • Lung cancer - option 3 comprehensive
  • Lung cancer - Circulating free (CF) DNA in lung cancer
  • Melanoma
  • Central Nervous System (CNS) Tumours
  • Chronic Lymphocytic Leukaemia (CLL) IGHV mutation status
  • DNA extraction from venous blood
  • DNA extraction from FFPE tissue
  • DNA extraction from Fresh/Frozen tissue
  • DNA extraction from saliva
  • DNA Quantification
  • Gastrointestinal stromal tumours (GIST)
  • Lymphoma (previously mature B&T FISH and mature B&T G-band)
  • Microsatellite instability testing (MSI)
  • Neuroblastoma
  • Next generation sequencing (NGS) somatic
  • NGS germline
  • Sarcoma
  • Molecular Tissue Identification
  • Pan cancer NTRK testing
  • Pathogenicity of somatic sequence variant (Classification only)
  • Tissue-i
  • Myeloid Disorders
  • Myeloma
  • Haematological technical FISH
  • Acute lymphoblastic leukaemia (ALL)
  • Maternal cell contamination (MCC) and fetal sexing
  • Pregnancy loss (molecular methods)
  • Prenatal constitutional cop number variation (CNV) detection
  • Prenatal karyotyping (previously AF and CVS)
  • Rapid prenatal testing for common aneuploidies (previously RA-FISH and MRA)
  • Recurrent mis-carriage karyotyping (previously blood postnatal)
  • Sex chromosome disorders karyotyping (previously blood postnatal)
  • Molecular testing for cystic fibrosis (CF)
  • Induced pluripotent stems (IPS) cells
  • Postnatal constitutional CNV detection
  • Disorders of sexual development (DSD)
  • Infertility
  • Severe developmental delay
  • Ataxia, including Hereditary Spastic Paraplegia (HSP)
  • Charcot Marie Tooth disease and related sensory and motor neuropathies
  • Cystic fibrosis and CFTR-related disorders
  • Epilepsy disorders
  • Familial colorectal cancer and polyposis
  • Familial endocrine tumour predisposition disorders
  • Familial hypercholesterolaemia
  • Fragile X syndrome and FMR1 related disorders
  • Hereditary breast and ovarian cancer disorders
  • Huntington disease
  • Hypotonic infant
  • Imprinting disorders
  • Linkage analysis
  • Muscular dystrophies
  • Neurodegenerative disorders
  • Skeletal dysplasias, including FGFR2/FGFR3 related disorders
  • X-inactivation
  • Aminoglycoside induced deafness
  • Prediction of 5-fluorouracil toxicity
  • Acquired array (CLL and MDS)
  • Ovarian cancer - BRCA testing in ovarian cancer (germline)
  • Ovarian cancer - BRCA testing in ovarian cancer (somatic)
  • Renal tumours
  • Thyroid cancer
  • Exome sequencing data interpretation
  • ISCN accuracy
  • Pathogenicity of germline sequence variants (classification and interpretation)
  • Pathogenicity of germline postnatal copy number variants (CNV)
  • BRCA variant classification
  • Single nucleotide variant (SNV) classification (trial)
  • Copy nucleotide variant (CNV) classification (trial)
European Molecular Genetics Quality Network (EMQN)
  • Hereditary Haemochromatosis
  • Stickler syndrome
  • IG/TR Clonality Testing in Suspected Lymphoproliferations/Lymphoma

For Cambridge Genomics Laboratory, satisfactory performance has been achieved for External Quality Assurance (EQA) schemes 2022 - 2023, to date.

In the event of any poor performance details will be noted below.

Note on scheme providers used for EQA: From 1 January 2018 Cytogenomics External Quality Assessment Service (CEQAS) and UK National External Quality Assessment Service (UK NEQAS) Molecular Genetics merged to become Genomics Quality Assessment (GenQA). GenQA is part of the UK NEQAS Consortium.