Short Description

NGS genetic DNA test detecets for variant and mutation detection in MT-TV gene for Neonatal death due Leigh syndrome, MT-TV related

PreTest Information

Clinical History of Patient who is going for MT-TV Gene Neonatal death due Leigh syndrome, MT-TV related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MT-TV Gene Neonatal death due Leigh syndrome, MT-TV related

Detail Description

MT-TV Gene Neonatal Death due to Leigh Syndrome

Leigh Syndrome is a rare inherited disorder that affects the central nervous system. It usually appears in the first year of life and progresses rapidly, resulting in severe neurological symptoms and eventual death. One of the causes of Leigh Syndrome is a mutation in the MT-TV gene, which is responsible for producing a protein that helps to generate energy in cells.

Symptoms of Leigh Syndrome

The symptoms of Leigh Syndrome can vary depending on the age of onset and the severity of the condition. In general, they include:

• Developmental delay
• Loss of motor skills
• Weakness or paralysis
• Respiratory problems
• Seizures
• Optic atrophy
• Hearing loss
• Heart disease

Diagnosis of Leigh Syndrome

Diagnosis of Leigh Syndrome involves a combination of clinical examination, imaging studies, and genetic testing. A doctor may suspect Leigh Syndrome based on a child's symptoms and medical history. Imaging studies, such as MRI or CT scans, can reveal characteristic changes in the brain that are associated with the condition. Genetic testing can confirm the presence of a mutation in the MT-TV gene.

MT-TV Related NGS Genetic DNA Test Cost

The cost of an MT-TV related NGS genetic DNA test in India is approximately INR 20,000. This test uses next-generation sequencing technology to analyze a person's DNA for mutations in the MT-TV gene. It can identify carriers of the mutation as well as those who are at risk of developing Leigh Syndrome.

Conclusion

Leigh Syndrome is a devastating condition that can lead to neonatal death. It is caused by a mutation in the MT-TV gene, which affects the production of energy in cells. Symptoms of Leigh Syndrome include developmental delay, loss of motor skills, respiratory problems, seizures, and heart disease. Diagnosis involves a combination of clinical examination, imaging studies, and genetic testing. An MT-TV related NGS genetic DNA test can identify carriers of the mutation and those at risk of developing the condition. The cost of this test in India is approximately INR 20,000.

If you suspect that your child may have Leigh Syndrome or if you are at risk of carrying the MT-TV mutation, talk to your doctor about genetic testing options.

For more information on genetic testing and diagnosis, 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 MT-TV Gene Neonatal death due Leigh syndrome, MT-TV related NGS Genetic DNA Test