MCADD Molecular Newborn Screening (bloodspots)
ACADM Medium-chain acyl-CoA dehydrogenase deficiency
PURPOSE OF PROGRAMME:
Molecular testing of newborn screening cards for ACADM variants, including c.985A>G p.(Lys329Glu), and determine their heterozygous/homozyous state.
MATERIAL PROVIDED: Bloodspot on neonatal screening card
DISTRIBUTIONS PER YEAR: 4
SAMPLES PER DISTRIBUTION: 2
FREQUENCY OF DISTRIBUTION: 4 monthly
PROGRAMME OF ANALYSIS:
Index case only
Details of the performance criteria for this programme can be obtained from UK NEQAS Genomics (GenQA) directly.
Telephone: +44 (0) 131 2426898
From 1st January 2018, Cytogenomics External Quality Assessment Service (CEQAS) and UK National External Quality Assessment Service (UK NEQAS) for Molecular Genetics merged to become Genomics Quality Assessment (GenQA). Please click here for an overview of GenQA