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 Infertility (pilot)

Online case scenario requiring interpretation of molecular and cytogenetic results associated with infertility.

2020 Linkage analysis (pilot)

Online case scenario requiring interpretation of linkage markers within a family for autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) disorders.

2020 Lymphoma

A FFPE lymphoma case for interphase FISH analysis for the detection of recurrent abnormalities.

2020 Maternal Cell Contamination (MCC) and sexing

Molecular DNA sexing and determination of level of maternal cell contamination.

2020 Mature B & T cell neoplasms (G-banded)

Online analysis for the detection of recurrent and non-recurrent abnormalities associated with lymphoma. G-banded analysis and other tests (e.g. FISH) provided, as applicable, to interpret the results.

2020 Mature B & T cell neoplasms (FISH for CLL and Lymphoma)

Online analysis for the detection of recurrent and non-recurrent abnormalities associated with lymphoma. G-banded analysis and other tests (e.g. FISH) provided, as applicable, to interpret the results.

2020 Microdeletion syndromes (pilot)

Fixed cell suspensions and DNA for FISH and MLPA analysis.for microdeletion syndromes e.g. Prader Willi syndrome, Williams syndrome.

2020 Microsatellite Instability (MSI)

Molecular testing of FFPE samples for microsatellite instability.

2020 Mitochondrial and POLG-related disorders

Molecular testing for Mitochondrial and POLG-related disorders.

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