GenQA

EQAs

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

All EQAs scheduled for release during April, May and June 2020 are now POSTPONED. Details of the revised timetable are available HERE

Last updated: Monday, 08 June 2020

2020 Disorders of Sexual Development (DSD) (pilot) Interpretation case scenarios for molecular and cytogenomic DSD e.g. Androgen Insensitivity syndrome (AIS), Congenital Adrenal Hyperplasia (CAH) and SHOX syndrome. Read more	2020 DNA extraction from blood Assessment of DNA quality and quantity from blood samples. Read more
2020 DNA extraction from formalin-fixed paraffin-embedded (FFPE) tissue Assessment of DNA quality and quantity from formalin-fixed paraffin-embedded (FFPE) tissue. Read more	2020 DNA extraction from fresh frozen (FF) tissue Assessment of DNA quality and quantity from fresh frozen tissue (FF) samples. Read more
2020 DNA extraction from saliva Assessment of DNA quality and quantity from saliva samples. Read more	2020 DNA Quantification DNA Quantification technical EQA for DNA concentration measurement. Read more
2020 Endocrine Tumours (pilot) Testing for somatic variants in endocrine tumours. Read more	2020 Epilepsy disorders Molecular testing for disorders associated with childhood-onset epilepsy (Rett syndrome, tuberous sclerosis and Dravet syndrome). Read more
2020 Eye disorders Molecular testing for retinopathies, structural eye disorders and albinism. Read more	2020 Familial Colorectal Cancer and Polyposis Molecular testing for Lynch syndrome, Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (FAP). Read more

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