2020 Infertility (pilot)

Scheme description
Online case scenario requiring interpretation of molecular and cytogenetic results associated with infertility.
Disorders/Gene target(s)
CFTR-related disorders
FMR1-related disorders
SHOX deficiency disorders
Y deletion
Karyotype
Clinical cases
Two
Testing/analysis
Results from a series of genetic tests are provided online.
Laboratories should follow their normal routine diagnostic pathway and select appropriate tests and interpret and report according to their laboratory policy.
Sample type
Two online cases.
Techniques
Any
Assessment
Submit a clinical report to include:
• Interpretation of the result
• Clerical accuracy
Eligibility
All laboratories worldwide.
Languages
English
ISO17043 Accredited EQA
No
EQA timeline
Sample dispatchOctober 2020 TBC
Testing period6 weeks
Assessment resultsDecember 2020
Final Summary reportFebruary 2021
Other information
Suitable for molecular and cytogenomic laboratories.
Fee
£100.00
GenQA code
2020INF
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