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 GIST

Molecular testing of gastrointestinal stromal tumours - Three formalin-fixed paraffin-embedded (FFPE) tissue samples distributed with accompanying clinical case scenarios.

2019 HD

Molecular testing for Huntington disease. DNA samples are distributed for three clinical case scenarios.

2019 Hereditary Breast & Ovarian Cancer

Molecular panel testing for disorders associated with hereditary breast and ovarian cancer (Familial Breast and Ovarian Cancer, Cowden Syndrome, Li-Fraumeni, Peutz Jeuger syndrome). DNA samples are distributed for three clinical case scenarios.

2019 Hypotonic infant (PWS, SMA, DM1)

Molecular testing for infants with a clinical presentation of hypotonia (myotonic dystrophy type 1, Prader-Willi syndrome and spinal muscular atrophy). DNA samples are distributed for three clinical case scenarios.

2019 Imprinting and uniparental disomy (UPD) for AS/BWS

Molecular testing for Angelman syndrome and Beckwith-Wiedemann syndrome. DNA samples are distributed for three clinical case scenarios.

2019 IPS stem cells exploratory pilot

IPS stem cells exploratory pilot - one online case for metaphase analysis.

2019 Lymphoma (FFPE)

Lymphoma - Formalin-fixed paraffin-embedded (FFPE) samples distributed for one - two clinical lymphoma case scenarios.

2019 Lynch syndrome

Molecular testing for Lynch syndrome. DNA samples are distributed for three clinical case scenarios.

2019 Mature B & T cell neoplasms (G-banded)

2019 Mature B & T cell neoplasms (G-banded) -Two clinical CLL or Lymphoma case scenarios with G-banded and FISH images

2019 Mature B & T cell Neoplasms (FISH for CLL and Lymphoma)

Mature B&T cell Neoplasms (FISH) - Two fixed cell suspensions distributed for a clinical CLL or Lymphoma case scenarios

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