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.

All EQA reports must be submitted in ENGLISH.  

Last updated: Tuesday, 27 November 2018

2019 MCADD

Molecular testing for the common ACADM c.985A>G p.(Lys329Glu) variant associated with Medium chain acyl-CoA dehydrogenase deficiency (MCADD). DNA samples are distributed for three clinical case scenarios.

2019 MCC & sexing

Molecular testing for Maternal cell contamination and fetal sexing. DNA samples are distributed for three clinical case scenarios.

2019 Mismatch repair

BRAF/MLH1 promoter methylation analysis for mismatch repair analysis - Three formalin-fixed paraffin-embedded (FFPE) tissue samples distributed with accompanying clinical case scenarios.

2019 Mitochondrial disorders (including POLG)

Molecular testing for neurological mitochondrial diseases and POLG. DNA samples are distributed for three clinical case scenarios.

2019 Molecular Rapid Aneuploidy (MRA)

2019Molecular Rapid Aneuploidy (MRA) - DNA samples are distributed for three clinical prenatal case scenarios.

2019 Molecular tissue identification

Molecular tissue identification - Samples for three clinical cases are distributed as formalin-fixed paraffin (FFPE) tissue samples with each clinical case having one to three associated samples.

2019 MSI

Microsatellite stability testing - Samples for three clinical cases are distributed, either as matched tumour and normal DNA extracted from formalin-fixed paraffin-embedded (FFPE) tissue or matched tumour and normal FFPE tissue samples.

2019 Myeloid (AML/MDS/CML)

Acute myeloid Leukaemia (CML/MDS/AML)- Two clinical Myeloid case scenarios with G-banded plus FISH images.

2019 Myeloma (sample plus online )

Myeloma - One fixed cell suspension sample distributed plus Images online for FISH analysis. Two clinical clinical Myeloma case scenarios

2019 Neuroblastoma pilot (array and FISH)

Neuroblastoma - One-two DNA samples are distributed from a neuroblastoma referral with clinical case scenarios plus online FISH images for analysis.

Pages

Go to top