Leigh syndrome is a rare, inherited neurological disorder that affects the central nervous system, particularly the brain. The syndrome is caused by mutations in the NDUFS3 gene, which is responsible for the production of an enzyme called complex I. Complex I plays a crucial role in the production of ATP, the cell's primary energy source. When complex I is not functioning properly, it leads to a lack of energy in the cells of the brain and nervous system, resulting in the symptoms of Leigh syndrome.

The symptoms of Leigh syndrome can vary widely and typically appear in infants between the ages of 3 months and 2 years. The most common symptoms include:

• Developmental delay and regression
• Weakness and loss of muscle tone
• Poor appetite and failure to gain weight
• Respiratory problems
• Seizures
• Visual and hearing impairments

Leigh syndrome is typically diagnosed through a combination of clinical examination, imaging studies, and genetic testing. Genetic testing can detect mutations in the NDUFS3 gene, which confirms the diagnosis of Leigh syndrome.

DNA Labs India offers NGS Genetic DNA testing for the NDUFS3 gene at a cost of INR:20000. This test can provide a definitive diagnosis of Leigh syndrome and can also identify carriers of the mutation.

If you or a loved one is experiencing symptoms of Leigh syndrome, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can improve outcomes and quality of life for individuals with this rare disorder.