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Accreditation

The Exeter Genomics Laboratory at the Royal Devon and Exeter Hospital is a UKAS accredited medical laboratory No.:8092 (see UKAS certificate).

External Quality Assessment

The laboratory participates in UK NEQAS/GENQA and EMQN schemes, where available.

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

Scheme Assessor Results 2021-2022 Results 2022-2023
Sanger DNA Sequencing Scheme EMQN Satisfactory performance Satisfactory performance
Haemochromatosis EMQN Satisfactory performance Satisfactory performance
Monogenic Diabetes EMQN Satisfactory performance Satisfactory performance
Von-Hippel Lindau EMQN Satisfactory performance Withdrawn (Scheme now offered by GenQA)
Multiple Endocrine Neoplasia type 2 EMQN Satisfactory performance Satisfactory performance
Congenital Adrenal Hyperplasia (CAH) EMQN Satisfactory performance Satisfactory performance
Skeletal dysplasias (Achondroplasia, Hypochondroplasia and Thanatophoric dysplasia) GenQA Satisfactory performance Satisfactory performance
Mitochondial (3243) and POLG-related disorders GenQA Satisfactory performance Satisfactory performance
Maternal Cell Contamination GenQA Satisfactory performance Satisfactory performance
Pathogenicity of sequence variants (classification and interpretation) GenQA Satisfactory performance Satisfactory performance
Imprinting and uniparental disomy (UPD) GenQA Satisfactory performance Satisfactory performance
Familial endocrine tumour predisposition disorders (MEN/PHAEO/VHL) GenQA Satisfactory performance Satisfactory performance
Variant validation GenQA Satisfactory performance Satisfactory performance
Next Generation Sequencing Scheme  GenQA Satisfactory performance Satisfactory performance
DNA Extraction from Blood GenQA Satisfactory performance Satisfactory performance
DNA Extraction from Fresh/Frozen Tissue GenQA Satisfactory performance Satisfactory performance
DNA Extraction from FFPE Tissue GenQA Satisfactory performance Satisfactory performance
DNA Quantification GenQA Satisfactory performance Satisfactory performance
Disorders of Sexual Development (DSD) – Interpretation only GenQA No performance given – pilot study only Satisfactory performance
Exome Sequencing Data Interpretation GenQA No performance given – pilot study only Satisfactory performance
Aminoglycoside-Induced deafness GenQA No performance given – pilot study only Satisfactory performance
Calcium disorders – interpretation only (pilot scheme) GenQA New scheme for 2022 Satisfactory performance
Pathogenicity of RNA splicing variants (pilot scheme) GenQA New scheme for 2022 Satisfactory performance
Molecular tissue identification GenQA Satisfactory performance Satisfactory performance
 HLA-B27 UKNEQAS H&I Satisfactory performance Satisfactory performance
Non-invasive fetal RhD genotyping program DEKS (Danish) Satisfactory performance Satisfactory performance

 

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8092

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