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 Respiratory Disorders

Molecular testing for FLCN-related disorders and Pulmonary Arterial Hypertension (PAH).

2020 Sarcoma

Testing of FFPE samples for sarcoma rearrangements/amplifications.

2020 Severe Developmental Delay (pilot)

Online case scenario with sequential multiple stages requring interpretation of molecular/cytogenetic test results.

2020 Skeletal dysplasis (including FGFR2 and FGFR3-related disorders)

Molecular testing for skeletal dysplasia (including FGFR2 and FGFR3-related disorders).

2020 Technical FISH (formally Acute Leukaemia FISH)

Fixed cell suspensions from acute leukaemia samples for FISH analysis.

2020 Tissue-i

Online histopathology assessment EQA module to enable individuals to evidence their competency to estimate tumour content, cellularity and select appropriate tissue areas for molecular testing.

2020 Tumour expression profiling (pilot)

Please register if you would be interested in participating in an EQA for breast cancer expression profiling

2020 Tumour mutation burden (TMB) pilot

IQNPath tumour mutation burden pilot.

2020 Variant Validation

Validation of a sequence variant(s) detected on a research basis. May also include family follow-up studies.

2020 X-inactivation

Molecular testing for X-inactivation including determination of X-inactivation ratios.

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