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 Eye disorders

Molecular testing for retinopathies, structural eye disorders and albinism.

2020 Familial Colorectal Cancer and Polyposis

Molecular testing for Lynch syndrome, Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (FAP).

2020 Familial endocrine tumour predisposition disorders

Molecular testing for MEN1, MEN2, VHL and FMTC disorders.

2020 Fragile X syndrome and FMR1-related disorders

Molecular testing for FMR1 (CGG)n repeats.

2020 Gastrointestinal stromal tumours (GIST)

Molecular testing of gastrointestinal stromal tumours.

2020 Hereditary Breast and Ovarian Cancer (HBOC) disorders

Molecular testing for disorders associated with HBOC.

2020 Huntington disease (HD)

Molecular testing for HTT (CAG)n repeats.

2020 Hypotonic infant

Molecular testing for infants with a clinical presentation of hypotonia (myotonic dystrophy type 1, Prader-Willi syndrome and spinal muscular atrophy).

2020 Imprinting Disorders

Molecular testing for disorders associated with Imprinting and uniparental disomy (UPD) (e.g. Angelman syndrome, Beckwith Wiedemann syndrome and Silver-Russell syndrome).

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