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
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