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 Muscular Dystrophies

Molecular testing for childhood-onset and adult-onset muscular dystrophies (including BMD/DMD).

2020 Myeloid disorders

Online analysis to detect recurrent and non-recurrent abnormalities associated with myeloid disorders. Interphase FISH and G-banded analysis, with other tests results provided, as applicable, to interpret the results.

2020 Myeloma

Sample or online analysis to detect recurrent abnormalities associated with myeloma. Interphase FISH, array or NGS can be undertaken on the sample.

2020 Neurodegenerative Disorders

Molecular testing for dementia, Parkinson disease and Amylotrophic lateral sclerosis (ALS).

2020 Neurofibromatosis type 1 and Rasopathies

Molecular testing for NF1, NF2 and Noonan syndrome.

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

Next Generation Sequencing (NGS) technical EQA for inherited disorders (germline).

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.

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