Mitochondrial and POLG-related disorders
m.3243A>G related disorders Myoclonic epilepsy with ragged red fibers (MERRF) syndrome Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome Leigh syndrome Leber's hereditary optic neuropathy (LHON) POLG-related disorders single mtDNA deletion disorders
PURPOSE OF PROGRAMME:
Molecular testing for Mitochondrial and POLG-related disorders.
MATERIAL PROVIDED: DNA in TE buffer
DISTRIBUTIONS PER YEAR: 1
SAMPLES PER DISTRIBUTION: 4
FREQUENCY OF DISTRIBUTION: 1
PROGRAMME OF ANALYSIS:
Whole mitochondrial genome, single gene(s), common pathogenic variants, large-scale mtDNA rearrangements, including mtDNA NGS. Determination of level of heteroplasmy. Index case and 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