2020 Respiratory Disorders

Scheme description
Molecular testing for FLCN-related disorders and Pulmonary Arterial Hypertension (PAH).
Disorders/Gene target(s)
FLCN-related disorders
Pulmonary Arterial Hypertension (PAH)
Birt Hogg Dube syndrome (BHD)
Follliculin
Pneumothorax
Clinical cases
Three
Testing/analysis
Gene panel, single gene, familial/predictive testing
Sample type
DNA in EDTA
Techniques
Testing can be performed using any methodology.
Assessment
Submit a clinical report to include:
• Genotyping of results
• Interpretation of the result
• Clerical accuracy
Performance criteria are applied.
Eligibility
Any laboratory worldwide
Languages
English
ISO17043 Accredited EQA
No
EQA timeline
Sample dispatchMay 2020
Testing period16 weeks
Assessment resultsOctober 2020
Final Summary reportDecember 2020
Other information
Submit Gene panel details in the Targets Tested form.
If your laboratory does not routinely test for all of these diseases, then please contact GenQA.
The cases always include different disorders so you will be able to participate.
Fee
£375.00
GenQA code
2020RESP
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