GenQA

EQAs

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

Last updated: Wednesday, 09 January 2019

2019 CF Molecular testing for cystic fibrosis and CFTR-related disorders. DNA samples are distributed for three clinical case scenarios. Read more	2019 cfDNA testing in lung cancer pilot Cell free DNA testing for EGFR mutations in plasma for lung cancer - Five plasma samples are distributed. Read more
2019 Charcot Marie Tooth disease/Hereditary Liability to Pressure Palsies Molecular testing for Charcot Marie Tooth disease and Hereditary Liability to Pressure Palsies (PMP22, GJB1, MPZ and other associated genes). DNA samples are distributed for three clinical case scenarios Read more	2019 Chorionic Villus Chorionic Villus - Two clinical prenatal case scenarios with G-banded (and FISH) images Read more
2019 Chromosome Breakage Syndromes Chromosome Breakage Syndrome - Two clinical postnatal case scenarios with solid stained metaphase images. Read more	2019 Clinical Genetics - Cardiovascular Genetics. Clinical Genetics - Cardiovascular Genetics. One sequential online case scenario per year. Read more
2019 Clinical Genetics - Dysmorphology Clinical Genetics - Dysmorphology EQA. One sequential online case scenario per year Read more	2019 Clinical Genetics - Monogenic Disorders Clinical Genetics - Monogenic Disorders - One sequential online case scenario per year. Read more
2019 Clinical Genetics - Oncogenetics Clinical Genetics - Oncogenetics . One sequential online case scenario per year. Read more	2019 CNS Tumours (Central Nervous system) -Molecular analysis. CNS Tumour testing for 1p/19q co-deletion status, MGMT promoter methylation plus IDH 1&2 mutation testing - Formalin-fixed paraffin-embedded (FFPE) samples distributed for two cases of 1p/19q co-deletion status and two cases of MGMT promoter methylation plus IDH 1&2 mutation testing. Laboratories can participate in both or either of these tests. Read more

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