EQAs

GenQA provides a wide range of genomic external quality assessments (EQAs) for both laboratory based services, clinical genetics centres and individual interpretation. Full details of all EQAs availabe can be accessed by clicking on the relevant links below.

Last updated: Wednesday, 09 January 2019

2019 Neurofibromatosis (types 1 and 2) & Schwannomatosis

Molecular testing for Neurofibromatosis (types 1 and 2) and schwannomatosis. DNA samples are distributed for three clinical case scenarios.

2019 NGS inherited disorders (germline) pilot

Next Generation Sequencing (NGS) technical EQA for inherited disorders (germline) - One germline DNA sample supplied for NGS. Up to three sets of data can be submitted.

2019 NGS somatic testing pilot

Next Generation Sequencing (NGS) technical EQA for somatic testing - One DNA sample extracted for formalin-fixed paraffin-embedded tumour tissue and one matched germline DNA sample (to be tested if this is routine procedure) supplied for NGS. Up to three sets of data can be submitted.

2019 Non-invasive prenatal diagnosis for common microdeletions pilot

Non-invasive prenatal diagnosis for common microdeletions pilot - Plasma samples are distributed for 2 or 3 clinical case scenarios.

2019 Non-invasive prenatal testing for common aneuploidies pilot

Non-invasive prenatal testing for aneuploidies - Plasma samples are distributed for 2 or 3 clinical case scenarios.

2019 Non-invasive prenatal testing for sexing pilot

Non-invasive prenatal testing for sex determination pilot EQA - Plasma samples are distributed for 2 or 3 clinical case scenarios.

2019 Pathogenicity of sequence variant (interpretation)

Classification of pathogenicity of sequence variants (interpretation only) . One clinical case with three variants supplied for interpretation and classification. Results to be submitted via a proforma only.

2019 Phaeochromocytoma and Paraganglioma Disorders

Molecular testing Von Hippel Lindau disease and other disorders associated with endocrine tumour predisposition. DNA samples are distributed for three clinical case scenarios

2019 Polyposis

Molecular testing for disorders associated with polyposis - Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). DNA samples are distributed for three clinical case scenarios.

2019 Postnatal constitutional CNV detection (array) (previously Constitutional microarray analysis - postnatal sample)

Postnatal constitutional CNV detection (array) - DNA samples are distributed for two clinical postnatal case scenarios. [Formerly Constitutional microarray analysis - postnatal sample ]

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