Meldau 2015 Abstract MiPschool Cape Town 2015
|Mitochondrial molecular diagnostics in South Africa: Lessons from the past 20 years.|
Meldau S (2015)
Event: MiPschool Cape Town 2015
Molecular diagnostic testing of mitochondrial disorders has been performed since 1989 at the NHLS Inherited Metabolic Disease Laboratory at Groote Schuur Hospital. Starting with a single mtDNA mutation for Lebers Hereditory Optic Neuropathy (LHON), this service has expanded to include a number of mtDNA mutations as well as some nuclear genes implicated in mitochondrial disorders. The laboratory now serves as the referral centre for most of South Africa. Mitochondrial disorders are phenotypically and genotypically heterogeneous. With 37 mtDNA genes and more than a thousand nuclear genes involved in mitochondrial function, molecular diagnosis of the condition can be challenging. To complicate matters, retrospective analysis of the more than 1000 patients tested in this laboratory to date highlighted serious concerns regarding the approaches for the diagnosis of mitochondrial disorders in South Africa. These include inappropriate requests, lack of clinical information, lack of consultation with mitochondrial experts by requesting clinicians and incorrect laboratory referrals, amongst others. These factors contribute to the very low positive diagnostic rate in South Africa. Implementation of new measures to ensure the use of appropriate testing strategies, together with an expansion of the current test repertoire, is underway in order to improve this service.
Labels: MiParea: mtDNA;mt-genetics, mt-Medicine, Patients
National Health Laboratory Service (NHLS), Johannesburg, South Africa. - [email protected]