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

2019 Chronic Lymphocytic Leukaemia (CLL) IGHV variant detection pilot

2019 CLL IGHV variant detection pilot - DNA and lyophilised cells are distributed for analysis. Analysis will include any technique for the detection of IGHV mutation status.

2019 Chronic Lymphocytic Leukaemia (CLL) TP53 (pilot)

2019 CLL TP53 variant detection pilot - DNA and lyophilised cells are distributed for analysis. Analysis will include any technique for the detection of TP53 variants

2019 DNA SEQUENCING - CNV / SV detection using NGS (v Germline)

Next Generation Sequencing (NGS) technical EQA for CNV / SV detection using NGS - reanalyse 2018 NGS Germline pilot EQA data for CNVs and SVs (>50bp) and submit a VCF and the corresponding BED file

2020 Acquired array (CLL and MDS)

DNA analysis of haematological cases (CLL and myeloid) for the detection of recurrent and non-recurrent abnormalities. Array and NGS can be undertaken for copy number loss and gain.

2020 Acute Lymphoblastic Leukaemia (ALL)

Online analysis of interphase FISH and G-banded images for the detection of recurrent and non-recurrent abnormalities associated with haematological disease. Other tests, as applicable, to interpret the results e.g. FISH.

2020 Amniotic fluid (AF)

Online analysis of G-banded metaphase images, and other tests, as applicable, to analyse for aneuploidy and rearrangements.

2020 Ataxias and Hereditary Spastic Paraplegia (HSP)

Molecular testing for adult onset and childhood onset ataxias (including Hereditary spastic paraplegia).

2020 Blood - postnatal

Online analysis for the detection of aneuploidy and rearrangements. G-banded metaphase images and other tests, as applicable.

2020 BRCA testing in ovarian cancer - germline

Testing for germline BRCA1 and BRCA2 variants in ovarian cancer.

2020 BRCA testing in ovarian cancer - somatic

Testing for somatic BRCA1 and BRCA2 variants in ovarian cancer.

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