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
GenQA (Genomics Quality Assessment) provides external quality assessment (EQA) / proficiency testing (PT) to the genomics community worldwide. GenQA EQAs cover the entire clinical genomics service from patient counselling, sample preparation, testing processes, results interpretation and reporting. Laboratories and individual clinicians have access to more than 100 unique EQAs available for a range of rare and inherited disorders and acquired diseases. Please click here for an overview of GenQA