mtDNA Deletion GeneProber
mtDNA deletion syndromes have been reported in patients with various clinical manifestations, including Addison disease,atypical Pearson presentation,
cyclic vomiting, severe renal tubulopathy,hepatic dysfunction, dysarthria,organic acidopathy,hypoparathyroidism and hypocalcemia. The mitochondrial DNA deletion syndrome is defined as any case with a single mtDNA deletion, regardless of the clinical phenotype.
Due to increasing awareness of the heterogeneous clinical presentations of mitochondrial disorders, more young children with undefined multisystemic illness are molecularly diagnosed with mtDNA deletions. Most patients with
mtDNA deletions manifesting non-neuromuscular multisystemic disorders early in life have mutant mtDNA in various tissues including blood.
The mtDNA Deletion GeneProber is labelled with digoxigenin specifically for use as probe for non-radioactive Southern blot analysis to detect deletion.