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Accreditation and External Quality Assessment

Accreditation

The Department of Molecular Genetics at the Royal Devon and Exeter Hospital is a UKAS accredited medical laboratory No.:8092 (see UKAS certificate 2015).

External Quality Assessment

The laboratory participates in UK NEQAS/GENQA and EMQN schemes, where available. Please see our UK NEQAS participation certificates for Molecular Pathology and Molecular Genetics.

A list of the schemes we participate in can be found below:

Scheme Assessor Results 2017-2018 Results 2018-2019
Sanger DNA Sequencing Scheme EMQN Satisfactory performance Satisfactory performance
Haemochromatosis  EMQN Satisfactory performance Satisfactory performance
Multiple Endocrine Neoplasia type 2  EMQN Satisfactory performance Satisfactory performance
Monogenic Diabetes  EMQN Satisfactory performance Satisfactory performance
 Von-Hippel Lindau  EMQN Satisfactory performance Satisfactory performance
Next Generation Sequencing Pilot Scheme  EMQN/GenQA Satisfactory performance (GenQA) Satisfactory performance (GenQA)
 Cystic Fibrosis UKNEQAS Molecular Genetics/GenQA Satisfactory performance (GenQA) Not participated in 2018/2019
Skeletal dysplasias (Achondroplasia, Hypochondroplasia and Thanatophoric dysplasia) UKNEQAS Molecular Genetics/GenQA N/A Satisfactory performance
Imprinting and uniparental disomy (UPD) UKNEQAS Molecular Genetics/GenQA N/A Satisfactory performance
Phaeochromocytoma and Paraganglioma (endocrine tumour predisposition and Von Hippel Lindau disease) UKNEQAS Molecular Genetics/GenQA N/A Satisfactory performance
Variant validation UKNEQAS Molecular Genetics/GenQA N/A Satisfactory performance
CNV detection by NGS pilot UKNEQAS Molecular Genetics/GenQA N/A Results not available yet (Molecular genetics)
DNA quantification UKNEQAS Molecular Genetics/GenQA N/A Results not available yet (Molecular genetics)
Disorders of Sexual Development (DSD) (pilot) – Interpretation only UKNEQAS Molecular Genetics/GenQA N/A Results not available yet (Molecular genetics)
 Maternal Cell Contamination UKNEQAS Molecular Genetics/GenQA Satisfactory performance (GenQA) Satisfactory performance (GenQA)
 Mitochondrial diseases (MIDD and MELAS only) UKNEQAS Molecular Genetics/GenQA Satisfactory performance (GenQA) Satisfactory performance (GenQA)
Pathogenicity of sequence variants interpretation Pilot Scheme UKNEQAS Molecular Genetics/GenQA Satisfactory performance (GenQA) Satisfactory performance (GenQA)
DNA Extraction from Blood UKNEQAS Molecular Genetics/GenQA Satisfactory performance (GenQA) Results not available yet (GenQA)
DNA Extraction from Fresh/Frozen Tissue UKNEQAS Molecular Genetics/GenQA Satisfactory performance (GenQA) Results not available yet (GenQA)
DNA Extraction from Saliva UKNEQAS Molecular Genetics/GenQA Satisfactory performance (GenQA) Results not available yet (GenQA)
 HLA-B27 UKNEQAS H&I Satisfactory performance Satisfactory performance
 Melanoma UKNEQAS Molecular Pathology/GenQA

Round 1 – satisfactory performance (GenQA)

Round 2 – satisfactory performance (GenQA)

Round 1 – satisfactory performance (GenQA)

Round 2 – Results not available yet

 Colorectal Cancer (KRAS and NRAS) UKNEQAS Molecular Pathology/GenQA

Round 1 – satisfactory performance (GenQA)

Round 2 – satisfactory performance (GenQA)

Round 1 – satisfactory performance (GenQA)

Round 2 –Results not available yet

Lung Cancer UKNEQAS Molecular Pathology/GenQA

Round 1 – satisfactory performance (GenQA)

Round 2 – satisfactory performance (GenQA)

Round 1 – satisfactory performance (GenQA)

Round 2 – Results not available yet

 

Molecular Tissue Identification Pilot scheme

UKNEQAS Molecular Pathology/GenQA Satisfactory performance Results not available yet
 Thrombophilia UKNEQAS Blood Coagulation Satisfactory performance Satisfactory performance
BCR-ABL and AML Translocation Identification (AML) UKNEQAS  Leukocyte Immunophenotyping (LI)

 

Satisfactory performance

 

 

Satisfactory performance

 

 IgH/TCR Clonality status (IgH) UKNEQAS Leukocyte Immunophenotyping (LI)

 

Satisfactory performance

 

 

Satisfactory performance

 

 JAK2 V617F Mutation Status (JAK2) UKNEQAS Leukocyte Immunophenotyping (LI) Satisfactory performance Satisfactory performance
 BCR-ABL Kinase Domain Mutation Status (KDM) UKNEQAS Leukocyte Immunophenotyping (LI) Satisfactory performance Satisfactory performance
 Minor BCR-ABL1 Quantitation UKNEQAS Leukocyte Immunophenotyping (LI)

 

Satisfactory performance

 

 

Satisfactory performance

 

BCR-ABL1 Quantification UKNEQAS Leukocyte Immunophenotyping (LI) Satisfactory performance Satisfactory performance
 BRAF V600E for Hairy Cell Leukaemia Mutation Status (BRAF) Pilot Scheme UKNEQAS Leukocyte Immunophenotyping (LI)

Satisfactory performance

 

Satisfactory performance

 

NPM1 Status UKNEQAS Leukocyte Immunophenotyping (LI)

 

Satisfactory performance

 

 

Satisfactory performance

 

KIT D816V Mutation Status (KIT) Pilot Scheme UKNEQAS Leukocyte Immunophenotyping (LI)

 

Satisfactory performance

 

Satisfactory performance