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. 
The closing date for registration for the 2020 EQAs is 28th February 2020.

Last updated: Thursday, 17 October 2019

2020 Next Generation Sequencing (NGS) somatic testing (pilot)

Next Generation Sequencing (NGS) technical EQA for somatic testing.

2020 Non-invasive prenatal testing (NIPT) for aneuploidies (pilot)

Testing of maternal plasma for fetal aneuploidies.

2020 Non-invasive prenatal testing (NIPT) for common microdeletions (pilot)

Testing of maternal plasma for common microdeletions in the fetus.

2020 Non-invasive prenatal testing (NIPT) for sexing (pilot)

Testing of maternal plasma for fetal sex determination.

2020 NTRK fusions (pilot)

Molecular testing for NTRK gene fusions.

2020 Osteogenesis Imperfecta (OI)

Molecular testing for OI.

2020 Pathogenicity of germline sequence variants (Classification & Interpretation)

Classification and interpretation of pathogenicity of germline sequence variants. Submit a clinical report.

2020 Pathogenicity of germline sequence variants (Classification only)

Classification of the pathogenicity of germline sequence variants. Submit results via a proforma. .

2020 Pathogenicity of somatic sequence variant (Classification only)

Classification of the pathogenicity of somatic sequence variants. Submit results via a proforma.

2020 Postnatal constitutional Copy Number Variantion (CNV) detection

DNA analysis to detect aneuploidy and unbalanced rearrangements, using microarrays and NGS.

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