Short Description

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

PreTest Information

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

Detail Description

NUBPL Gene Leigh Syndrome NGS Genetic DNA Test

Leigh syndrome is a rare genetic disorder that affects the central nervous system. It usually begins in infancy or early childhood and can cause a range of symptoms, including developmental delays, muscle weakness, seizures, and breathing difficulties. The condition is caused by mutations in various genes, including the NUBPL gene.

What is the NUBPL gene?

The NUBPL gene provides instructions for making a protein that is involved in the production of energy within cells. Mutations in this gene can lead to a deficiency in the protein, which can cause a range of health problems, including Leigh syndrome.

What is Leigh syndrome?

Leigh syndrome is a rare genetic disorder that affects the central nervous system. It usually begins in infancy or early childhood and can cause a range of symptoms, including:

• Developmental delays
• Muscle weakness
• Seizures
• Breathing difficulties

The symptoms of Leigh syndrome can vary widely between individuals, and the severity of the condition can also vary. In some cases, Leigh syndrome can be life-threatening.

How is Leigh syndrome diagnosed?

Leigh syndrome can be diagnosed using a range of tests, including:

• Physical examination
• Blood tests
• Genetic testing
• Brain imaging tests

Genetic testing is an important tool in the diagnosis of Leigh syndrome. By analyzing a person's DNA, doctors can identify mutations in genes that are associated with the condition, including the NUBPL gene.

NUBPL gene Leigh syndrome NGS Genetic DNA Test

The NUBPL gene Leigh syndrome NGS Genetic DNA Test is a genetic test that analyzes a person's DNA to identify mutations in the NUBPL gene. This test can help doctors diagnose Leigh syndrome and provide appropriate treatment and management for the condition.

The cost of the NUBPL gene Leigh syndrome NGS Genetic DNA Test is INR 20,000.

Conclusion

The NUBPL gene Leigh syndrome NGS Genetic DNA Test is an important tool in the diagnosis of Leigh syndrome. By identifying mutations in the NUBPL gene, doctors can provide appropriate treatment and management for the condition. If you or a loved one is experiencing symptoms of Leigh syndrome, talk to your doctor about the possibility of genetic testing.

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 NUBPL Gene Leigh syndrome NGS Genetic DNA Test