Short Description

NGS genetic DNA test detecets for variant and mutation detection in SURF1 gene for Leigh syndrome due to COX deficiency

PreTest Information

Clinical History of Patient who is going for SURF1 Gene Leigh syndrome due to COX deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SURF1 Gene Leigh syndrome due to COX deficiency

Detail Description

SURF1 Gene Leigh Syndrome Due to COX Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Leigh syndrome is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the SURF1 gene, which plays a role in the function of cytochrome c oxidase (COX), an enzyme that is important for energy production in the cells. When the SURF1 gene is mutated, it leads to a deficiency of COX, which can result in a range of symptoms.

Symptoms of Leigh Syndrome Due to COX Deficiency

The symptoms of Leigh syndrome due to COX deficiency can vary widely, but they typically appear in infancy or early childhood. Some of the most common symptoms include:

• Developmental delays
• Muscle weakness and stiffness
• Poor feeding and weight loss
• Vomiting
• Seizures
• Difficulty breathing

In some cases, Leigh syndrome due to COX deficiency can also cause vision and hearing problems, as well as intellectual disability.

Diagnosis of Leigh Syndrome Due to COX Deficiency

Diagnosing Leigh syndrome due to COX deficiency can be challenging, as the symptoms can mimic those of other conditions. However, there are several tests that can be used to confirm a diagnosis, including:

• Genetic testing: A DNA test can be used to look for mutations in the SURF1 gene.
• Blood and urine tests: These tests can be used to look for abnormalities in the levels of certain chemicals in the body.
• Brain imaging: Imaging tests such as MRI or CT scans can be used to look for signs of brain damage.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS genetic DNA testing for Leigh syndrome due to COX deficiency can vary depending on the provider and location. However, DNA Labs India offers this test for a cost of INR:20000.

Conclusion

Leigh syndrome due to COX deficiency is a rare genetic disorder that can cause a range of symptoms, including developmental delays, muscle weakness, and seizures. If you suspect that your child may have this condition, it is important to seek medical attention promptly. With the help of genetic testing and other diagnostic tools, it is possible to get an accurate diagnosis and develop a treatment plan that can help manage symptoms and improve quality of life.

For more information about genetic testing for Leigh syndrome due to COX deficiency, contact DNA Labs India today.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SURF1 Gene Leigh syndrome due to COX deficiency NGS Genetic DNA Test