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 Inborn Errors of Metabolism (IEM)

Molecular testing for Fabry disease, Tay Sachs disease, Gaucher disease and other IEM.

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.

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