Inborn Errors of Metabolism (IEM)
Fabry disease Gaucher disease Tay-Sachs disease MCADD GLA, GBA, HEXA, ACADM
PURPOSE OF PROGRAMME:
Molecular testing for Fabry disease, Tay Sachs, Gaucher disease and other IEM.
MATERIAL PROVIDED: DNA in TE buffer
DISTRIBUTIONS PER YEAR: 1
SAMPLES PER DISTRIBUTION: 4
FREQUENCY OF DISTRIBUTION: 1
PROGRAMME OF ANALYSIS:
Gene panel, single gene, familial/predictive testing
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