Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFS4 gene for Leigh syndrome

PreTest Information

Clinical History of Patient who is going for NDUFS4 Gene Leigh syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFS4 Gene Leigh syndrome

Detail Description

NDUFS4 Gene Leigh Syndrome 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 NDUFS4 gene, which is responsible for the production of a protein that is important for the function of mitochondria, the energy-producing organelles in cells. Leigh syndrome can be caused by mutations in other genes as well, but mutations in NDUFS4 are one of the most common causes.

Symptoms of Leigh Syndrome

The symptoms of Leigh syndrome can vary depending on the age of onset and the severity of the disease. In general, the symptoms include:

• Poor sucking ability and feeding difficulties in infants
• Weakness and lack of muscle tone
• Developmental delays and regression
• Seizures
• Respiratory problems
• Progressive loss of motor skills
• Visual and hearing impairments

Diagnosis of Leigh Syndrome

Leigh syndrome is typically diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. Imaging studies such as magnetic resonance imaging (MRI) can show characteristic changes in the brain that are associated with the disease. Genetic testing can confirm the diagnosis by identifying mutations in the NDUFS4 gene or other genes associated with Leigh syndrome.

NGS Genetic DNA Test for NDUFS4 Gene Leigh Syndrome

Next-generation sequencing (NGS) technology allows for rapid and comprehensive analysis of genetic mutations associated with Leigh syndrome. DNA Labs India offers an NGS genetic DNA test for NDUFS4 gene Leigh syndrome at a cost of INR 20000. This test can identify mutations in the NDUFS4 gene and other genes associated with Leigh syndrome with high accuracy.

Conclusion

Leigh syndrome is a rare genetic disorder that can cause a wide range of symptoms and can be caused by mutations in several genes, including the NDUFS4 gene. DNA Labs India offers an NGS genetic DNA test for NDUFS4 gene Leigh syndrome at a cost of INR 20000. Early diagnosis of Leigh syndrome can help to guide treatment and improve outcomes for affected individuals.

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 NDUFS4 Gene Leigh syndrome NGS Genetic DNA Test