Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFAF3 gene for Leigh syndrome

PreTest Information

Clinical History of Patient who is going for NDUFAF3 Gene Leigh syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFAF3 Gene Leigh syndrome

Detail Description

NDUFAF3 Gene and Leigh Syndrome: Symptoms, Diagnosis, and Genetic Testing Cost

Leigh Syndrome is a rare genetic disorder that affects the central nervous system. It is caused by mutations in several different genes, including the NDUFAF3 gene. The NDUFAF3 gene provides instructions for making a protein that is essential for the proper function of mitochondria, which are the energy-producing structures in cells.

Individuals with Leigh Syndrome caused by mutations in the NDUFAF3 gene may experience a variety of symptoms, including:

• Developmental delays
• Weakness
• Difficulty with movement
• Seizures
• Respiratory problems
• Vision loss

Diagnosis of Leigh Syndrome caused by NDUFAF3 mutations typically involves genetic testing, such as Next-Generation Sequencing (NGS). This type of testing can identify mutations in the NDUFAF3 gene and other genes associated with Leigh Syndrome. NGS testing for Leigh Syndrome typically costs around INR 20,000 in India.

It is important to note that genetic testing alone may not always be sufficient for a diagnosis of Leigh Syndrome. Other tests, such as brain imaging or metabolic testing, may also be necessary.

Individuals who suspect they may have Leigh Syndrome or who have a family history of the condition should consult with a healthcare provider to discuss testing options and appropriate next steps.

Conclusion

Leigh Syndrome caused by mutations in the NDUFAF3 gene is a rare genetic disorder that can cause a variety of symptoms related to the central nervous system. Diagnosis typically involves genetic testing, such as NGS, which can cost around INR 20,000 in India. However, other tests may also be necessary for a complete diagnosis. If you suspect you or a loved one may have Leigh Syndrome, it is important to consult with a healthcare provider for appropriate testing and treatment options.

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 NDUFAF3 Gene Leigh syndrome NGS Genetic DNA Test