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 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 HRR gene testing in prostate cancer

Testing for variants in BRCA1, BRCA2, ATM or CDK12 in prostate cancer.

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).

2020 Inborn Errors of Metabolism (IEM)

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

Pages

Go to top