This test analyses the POLG gene for germline variants associated with a spectrum of mitochondrial disorders. Biallelic pathogenic variants can cause disorders including mitochondrial DNA depletion syndromes, Alpers–Huttenlocher syndrome and ataxia-neuropathy spectrum disorders, while some heterozygous variants are associated with autosomal dominant progressive external ophthalmoplegia. Clinical features may include seizures, ataxia, neuropathy, myopathy, ophthalmoplegia and liver disease. Genetic testing can assist with diagnosis, clinical management and family risk assessment.
MPST