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MCADD Molecular Newborn Screening (bloodspots)

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Molecular testing of newborn screening cards for ACADM variants, including c.985A>G p.(Lys329Glu), and determine their heterozygous/homozyous state.

EQA INFORMATION

EQA Code
NBSM1
Submission
Proforma
Techniques
Any methodology
Eligibility
All laboratories worldwide.
Language
English, French, German, Italian, Polish, Portuguese, Spanish
EQA Accreditation
EQA accredited to ISO 17043:2010
EQA open

01 April 2025

16 June 2025

29 September 2025

12 January 2026

Testing period
4 weeks

OTHER INFORMATION

What are participants required to do?
  • Enrolled participants will receive details by email when an EQA is open for assessment and/or samples have been dispatched.  
  • Participants are expected to access the instructions and information for the cases/samples online and to analyse them according to their laboratory/centre protocols. 
  • Participants must submit their anonymised results by the deadline using their standard laboratory report or a proforma provided by GenQA.  The submitted results are independently assessed for the accuracy of the analytical/genotyping results. 

What can I expect as a participant?
Every participant will receive:
  • An Individual Laboratory/Centre Report (ILR/ICR) with educational advice for each distribution of this EQA
  • The Summary report for each distribution of this EQA which contains information regarding general findings, a summary of methodologies used, common errors, number of participants and benchmarking. 
  • Access to a live Performance Certificate summarising your performance status for all EQAs in which you are enrolled. 

Please note: EQA details may be subject to change prior to EQA distribution.   

PRODUCTS

Sample type: Bloodspot on neonatal screening card
Testing/analysis: Index case only.  Please state if your laboratory only tests for the common ACADM c.985A>G p.(Lys329Glu) variant.
Conditions/Gene target(s):
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • ACADM
Number of cases: Eight per year (two per distribution)

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MCADD Molecular Newborn Screening (bloodspots)

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