2020 Osteogenesis Imperfecta (OI)

Scheme description
Molecular testing for OI.
Disorders/Gene target(s)
Osteogenesis Imperfecta
COL1A1, COL1A2
Clinical cases
Three
Testing/analysis
Gene panel, single gene and predictive/family tests
Sample type
DNA in TE
Techniques
Any methodology.
Assessment
Submit a clinical report to include:
• Genotyping of results
• Interpretation of the result
• Clerical accuracy
Performance criteria are applied.
Eligibility
All laboratories worldwide.
Languages
English
ISO17043 Accredited EQA
No
EQA timeline
Sample dispatchJune 2020
Testing period12 weeks
Assessment resultsOctober 2020
Final Summary reportDecember 2020
Other information
Submit Gene panel details in the Targets Tested form.
Fee
£375.00
GenQA code
2020OI
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