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
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