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.

All EQA reports must be submitted in ENGLISH.  

Last updated: Tuesday, 27 November 2018

2019 CF

Molecular testing for Cystic fibrosis. DNA samples are distributed for three clinical case scenarios.

2019 cfDNA testing in lung cancer pilot

Cell free DNA testing for EGFR mutations in plasma for lung cancer - Five plasma samples are distributed.

2019 Charcot Marie Tooth disease/Hereditary Liability to Pressure Palsies

Molecular testing for Charcot Marie Tooth disease and Hereditary Liability to Pressure Palsies. DNA samples are distributed for three clinical case scenarios

2019 Chorionic Villus

Chorionic Villus - Two clinical prenatal case scenarios with G-banded (and FISH) images

2019 Chromosome Breakage Syndromes pilot

Chromosome Breakage Syndrome pilot - One clinical postnatal case scenarios with solid stained metaphase images.

2019 Clinical Genetics - Cardiovascular Genetics.

Clinical Genetics - Cardiovascular Genetics. One sequential online case scenario per year.

2019 Clinical Genetics - Dysmorphology

Clinical Genetics - Dysmorphology EQA. One sequential online case scenario per year

2019 Clinical Genetics - Monogenic Disorders

Clinical Genetics - Monogenic Disorders - One sequential online case scenario per year.

2019 Clinical Genetics - Oncogenetics

Clinical Genetics - Oncogenetics . One sequential online case scenario per year.

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.

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