2020-21 MCADD blood spot

Scheme description
Molecular testing of newborn screening cards for ACADM variants, including c.985A>G p.(Lys329Glu), to determine their heterozygous/homozyous state.
Disorders/Gene target(s)
ACADM
Medium-chain acyl-CoA dehydrogenase deficiency
Clinical cases
Eight per year (two per distribution)
Testing/analysis
Index case only.
Sample type
Newborn screening card.
Techniques
Any methodology.
Assessment
Submit a clinical report or proforma to include:
• Genotyping of results
Performance criteria are applied.
Eligibility
All laboratories worldwide.
Languages
English
ISO1743 Accredited EQA
Yes
EQA timeline
Sample dispatchApril 2020 <br>June 2020 <br>October 2020 <br>January 2021
Testing period4 weeks
Assessment resultsMay 2020 <br>July 2020 <br>November 2020 <br>February 2021
Final Summary reportJune 2020 <br>August 2020 <br>December 2020 <br>March 2021
Other information
If your laboratory only tests for ACADM c.985A>G p.(Lys329Glu) then please state this.
Four distributions per year.
Fee
£850.00
GenQA code
2020MCADDBS1
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