Leigh syndrome is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the NDUFS7 gene, which provides instructions for making a protein complex that is essential for the function of the mitochondria, the energy-producing structures in cells. Leigh syndrome can cause a range of symptoms, including developmental delays, muscle weakness, seizures, and breathing difficulties.

Symptoms of Leigh Syndrome

• Developmental delays
• Muscle weakness
• Seizures
• Breathing difficulties
• Loss of appetite
• Vomiting
• Difficulty swallowing
• Constipation
• Eye abnormalities
• Ataxia

Diagnosis of Leigh Syndrome

Leigh syndrome can be diagnosed through a variety of tests, including blood tests, urine tests, muscle biopsies, and genetic testing. The most reliable way to diagnose Leigh syndrome is through genetic testing, which can identify mutations in the NDUFS7 gene. Genetic testing can also be used to determine the risk of passing the mutation on to future generations.

NGS Genetic DNA Test for NDUFS7 Gene Leigh Syndrome

DNA Labs India offers a NGS Genetic DNA Test for the NDUFS7 gene, which can identify mutations that cause Leigh syndrome. This test is a comprehensive analysis of the entire coding region of the NDUFS7 gene and can detect both known and novel mutations. The test is performed using Next-Generation Sequencing (NGS) technology, which provides accurate and reliable results.

Cost of NGS Genetic DNA Test for NDUFS7 Gene Leigh Syndrome

The cost of the NGS Genetic DNA Test for the NDUFS7 gene Leigh syndrome at DNA Labs India is INR 20000.

Conclusion

Leigh syndrome is a rare genetic disorder that can cause a range of symptoms, including developmental delays, muscle weakness, seizures, and breathing difficulties. The NGS Genetic DNA Test for the NDUFS7 gene offered by DNA Labs India can identify mutations that cause Leigh syndrome and provide accurate and reliable results. The cost of the test is INR 20000.