Short Description

NGS genetic DNA test detecets for variant and mutation detection in BCS1L gene for Leigh syndrome

PreTest Information

Clinical History of Patient who is going for BCS1L Gene Leigh syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BCS1L Gene Leigh syndrome

Detail Description

BCS1L Gene Leigh Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Leigh syndrome is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the BCS1L gene, which is responsible for producing a protein that is important for the function of mitochondria. Mitochondria are the energy-producing structures in cells, and their dysfunction can lead to a wide range of symptoms.

Symptoms of Leigh Syndrome

The symptoms of Leigh syndrome can vary widely depending on the specific mutation and the age of onset. Some common symptoms include:

• Developmental delays or regression
• Muscle weakness or stiffness
• Difficulty with movement or coordination
• Vision or hearing loss
• Seizures
• Breathing difficulties

These symptoms may appear in infancy or childhood, and can progressively worsen over time. In some cases, Leigh syndrome may lead to a shortened lifespan.

Diagnosis of Leigh Syndrome

Leigh syndrome is typically diagnosed through genetic testing. A sample of DNA is taken from the patient, and specific genes are analyzed for mutations. Next-generation sequencing (NGS) is a powerful tool for genetic testing, as it allows for the analysis of multiple genes simultaneously.

The BCS1L gene is one of many genes that can be analyzed through NGS. If a mutation is found in this gene, it can confirm a diagnosis of Leigh syndrome. However, it is important to note that not all cases of Leigh syndrome are caused by mutations in the BCS1L gene. Other genes may also be involved.

The Cost of NGS Genetic DNA Testing for Leigh Syndrome

The cost of NGS genetic testing can vary depending on the specific laboratory and the number of genes analyzed. However, for Leigh syndrome testing specifically, the cost is typically around INR 20,000 in India.

It is important to note that genetic testing may not be covered by insurance, and out-of-pocket costs can be significant. However, genetic testing can provide valuable information for patients and their families, including diagnosis, prognosis, and potential treatment options.

Conclusion

Leigh syndrome is a rare genetic disorder that can cause a wide range of symptoms. Genetic testing, including NGS, can be a valuable tool for diagnosis and management of this condition. While the cost of genetic testing can be significant, the information gained can be invaluable for patients and their families.

For more information on genetic testing for Leigh syndrome or other conditions, please contact DNA Labs India.

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 BCS1L Gene Leigh syndrome NGS Genetic DNA Test