EQAs

GenQA provides a wide range of genomic external quality assessments (EQAs) for both laboratory based services, clinical genetics centres and individual interpretation. Full details of all EQAs availabe can be accessed by clicking on the relevant links below.

All EQA reports must be submitted in ENGLISH.  

Last updated: Tuesday, 27 November 2018

2019 D/BMD

Molecular testing for Duchenne and Becker muscular dystrophies. DNA samples are distributed for three clinical case scenarios.

2019 Dementia/ALS

Molecular testing for Dementia and Amyotrophic lateral sclerosis (including C9orf72, MAPT and PSEN1). DNA samples are distributed for three clinical case scenarios.

2019 DNA extraction from blood

Assessment of DNA quality and quantity from blood samples - Three whole-peripheral blood samples in EDTA supplied for DNA extraction.

2019 DNA extraction from FF tissue

Assessment of DNA quality and quantity from fresh frozen (FF) tissue - Two fresh tissue samples supplied within 48 hours of donation for DNA extraction.

2019 DNA extraction from FFPE tissue

Assessment of DNA quality and quantity from formalin-fixed paraffin-embedded (FFPE) tissue

2019 DNA extraction from saliva

Assessment of DNA quality and quantity from saliva samples - Three saliva samples in preservative supplied for DNA extraction.

2019 DNA Quantification

DNA Quantification technical EQA for DNA concentration measurement - Six DNA samples with matching blank samples supplied for DNA quantification.

2019 Fabry disease

Molecular testing for Fabry disease. DNA samples are distributed for three clinical case scenarios.

2019 FH

Molecular testing for familial hypercholesterolaemia. DNA samples are distributed for three clinical case scenarios.

2019 FRAX

Molecular testing for Fragile X syndrome. DNA samples are distributed for three clinical case scenarios.

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