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.  

All EQAs scheduled for release during April, May and June 2020 are now POSTPONED.  Details of the revised timetable are available HERE

Last updated: Monday, 08 June 2020

2020 Non-invasive prenatal testing (NIPT) for aneuploidies

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

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.

2020 Pregnancy loss (G-banded only) (formerly Products of Conception)

Online analysis of G-banded metaphase images to analyse for aneuploidy and rearrangements.

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