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 Retinal disorders

Molecular testing for retinal disorders, including Retinitis pigmentosa, Cone/Cone-rod dystrophies, Leber congenital amaurosis and macular degeneration. DNA samples are distributed for three clinical case scenarios.

2019 Sarcoma

Sarcoma - Three formalin-fixed paraffin-embedded (FFPE) tissue samples are distributed with clinical case scenarios.

2019 Severe Developmental Delay

2019 Severe Developmental Delay Interpretation Case Scenario pilot - One sequential online case scenario per year.

2019 Skeletal dysplasis

Molecular testing for FGFR2/FGFR3 related disorders and other skeletal dysplasias. DNA samples are distributed for three clinical scenarios.

2019 Tissue-i

Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, cellularity and select appropriate tissue areas for molecular testing.

2019 Variant Validation

Validation of a sequence variant detected on a research basis. May also include family follow-up studies. DNA samples are distributed for three clinical case scenarios.

2019 X-inactivation

Molecular testing for X-inactivation including determination of X-inactivation ratios. DNA samples are distributed for three clinical case scenarios.

2019-20 CF blood spot 1

Molecular testing of blood spots for CF mutations EQA - Three neonatal blood spot cards are distributed for each EQA run.

2019-20 CF blood spot 2

Molecular testing of blood spots for CF mutations EQA - Three neonatal blood spot cards are distributed for each EQA run.

2019-20 CF blood spot 4

Molecular testing of blood spots for CF mutations EQA - Three neonatal blood spot cards are distributed for each EQA run.

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