Tests Available

Mitochondrial Diseases

      Mitochondrial Biochemistry

• Respiratory chain enzymes
• Coenzyme Q10
• Thymidine phosphorylase

      Mitochondrial Disease DNA Analysis

• Mutations in mitochondrial DNA
• Secondary defects of Mitochondrial DNA (Depletion of Mitochondrial DNA, Multiple deletions of Mitochondrial DNA)
• Mutations in nuclear DNA

Glycogenoses and Lipid Disorders

• Biochemistry
  
• DNA analysis

Muscle Morphology