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 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). Read more	2020 Chorionic Villus (CVS) Online analysis of G-banded metaphase images and other tests, as applicable, for the detection of aneuploidy and rearrangements. Read more
2020 Chromosome Breakage syndromes Cytogenomic detection of chromosome breakage in Fanconi anaemia and other breakage disorders. Read more	2020 Chronic Lymphocytic Leukaemia (CLL) IGHV mutation status (pilot) Distribution of DNA from chronic lymphocytic leukaemia samples for IGHV mutation status Read more
2020 Chronic Lymphocytic Leukaemia (CLL) TP53 mutation analysis (pilot) DNA analysis of chronic lymphocytic leukaemia samples for TP53 mutation analysis (pilot) Read more	2020 Clinical Genetics - Cardiovascular Genetics Online educational case scenario with multiple stages. Read more
2020 Clinical Genetics - Dysmorphology Online educational case scenario with multiple stages. Read more	2020 Clinical Genetics - Monogenic Disorders Online educational case scenario with multiple stages. Read more
2020 Clinical Genetics - Oncogenetics Online educational case scenario with multiple stages. Read more	2020 Cystic fibrosis (CF) and CFTR-related disorders Molecular testing for cystic fibrosis (CF) and CFTR-related disorders. Read more

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