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. 
The closing date for registration for the 2020 EQAs is 28th February 2020.

Last updated: Thursday, 17 October 2019

2020 Cardiac Disorders

Molecular testing for disorders associated with arrhythmia, cardiomyopathies and aortic dissection.

2020 Central Nervous System (CNS) Tumours

Testing for 1p/19q co-deletion status and MGMT promotor methylation and IDH1 / IDH2 status. Additional test information is provided for each case.

2020 Charcot Marie Tooth disease (CMT) and related sensory and motor neuropathies

Molecular testing for Charcot Marie Tooth disease (CMT), Hereditary Liability to Pressure Palsies (HNPP), Hereditary Motor and Sensory Neuropathy (HMSN).

2020 Chorionic Villus (CVS)

Online analysis of G-banded metaphase images and other tests, as applicable, for the detection of aneuploidy and rearrangements.

2020 Chromosome Breakage syndromes

Cytogenomic detection of chromosome breakage in Fanconi anaemia and other breakage disorders.

2020 Chronic Lymphocytic Leukaemia (CLL) IGHV mutation status (pilot)

Testing of DNA from chronic lymphocytic leukaemia samples for IGHV mutation status.

2020 Chronic Lymphocytic Leukaemia (CLL) TP53 analysis (pilot)

DNA analysis of chronic lymphocytic leukaemia samples for TP53 variant analysis.

2020 Circulating free DNA (cfDNA) testing in lung cancer (pilot)

Circulating free DNA(cfDNA) testing for EGFR variant in plasma for lung cancer . Details to be confirmed including cost of participation.

2020 Clinical Genetics - Cardiovascular Genetics

Online educational case scenario with multiple stages.

2020 Clinical Genetics - Dysmorphology

Online educational case scenario with multiple stages.


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