External Quality Assessment

The laboratories take part in relevant external quality assessment (EQA) schemes run by:

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

EuroClonality

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.

External Quality Assessment

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