2020 Preimplantation Genetic Testing (PGT) for monogenic disorders Stage 1

Scheme description
Testing for a specific monogenic disorder (to be decided).
Disorders/Gene target(s)
Spinal muscular atrophy (SMA)

You can withdraw from this EQA, if your laboratory does not offer PGT for the disease being tested.
Clinical cases
1
Testing/analysis
Stage 1: DNA feasibility study.
Stage 2: Embryo testing.
Sample type
Stage 1: DNA
Stage 2: Cells (single or six cells offered)
Techniques
Any methodology.
Assessment
Stage 1: Genotyping accuracy and PGD testing strategy.
Stage 2: Genotyping accuracy, interpretation of the result with regards to genetic suitability for embryo transfer and clerical accuracy.
Performance criteria will be applied.
Eligibility
All laboratories worldwide
Languages
English
ISO17043 Accredited EQA
Yes
EQA timeline
Sample dispatchStage 1: June 2020 <br>Stage 2: September 2020
Testing periodSix weeks for each stage
Assessment resultsDecember 2020
Final Summary reportFebruary 2021
Other information
Fee
£125.00
GenQA code
2020PGTMON1
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