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.

Last updated: Thursday, 02 April 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.

2020 DNA extraction from blood

Assessment of DNA quality and quantity from blood samples.

2020 DNA extraction from formalin-fixed paraffin-embedded (FFPE) tissue

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

2020 DNA extraction from fresh frozen (FF) tissue

Assessment of DNA quality and quantity from fresh frozen tissue (FF) samples.

2020 DNA extraction from saliva

Assessment of DNA quality and quantity from saliva samples.

2020 DNA Quantification

DNA Quantification technical EQA for DNA concentration measurement.

2020 Endocrine Tumours (pilot)

Testing for somatic variants in endocrine tumours.

2020 Epilepsy disorders

Molecular testing for disorders associated with childhood-onset epilepsy (Rett syndrome, tuberous sclerosis and Dravet syndrome).

2020 Eye disorders

Molecular testing for retinopathies, structural eye disorders and albinism.

2020 Familial Colorectal Cancer and Polyposis

Molecular testing for Lynch syndrome, Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (FAP).

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