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 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 Clinical Genetics - Cardiovascular Genetics

Online educational case scenario with multiple stages.

2020 Clinical Genetics - Dysmorphology

Online educational case scenario with multiple stages.

2020 Clinical Genetics - Monogenic Disorders

Online educational case scenario with multiple stages.

2020 Clinical Genetics - Oncogenetics

Online educational case scenario with multiple stages.

2020 Cystic fibrosis (CF) and CFTR-related disorders

Molecular testing for cystic fibrosis (CF) and CFTR-related disorders.

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