SCID 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
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