Short Description

NGS genetic DNA test detecets for variant and mutation detection in MT-ATP6 gene for Mitochondrial complex V (ATP synthase) deficiency

PreTest Information

Clinical History of Patient who is going for MT-ATP6 Gene Mitochondrial complex V (ATP synthase) deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MT-ATP6 Gene Mitochondrial complex V (ATP synthase) deficiency

Detail Description

MT-ATP6 Gene Mitochondrial Complex V (ATP Synthase) Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

MT-ATP6 gene mitochondrial complex V (ATP synthase) deficiency is a rare genetic disorder that affects the mitochondria, which are the energy-producing structures in cells. The condition is caused by mutations in the MT-ATP6 gene, which provides instructions for making a protein that is a subunit of complex V (ATP synthase) in the mitochondria. This protein is essential for the production of ATP, the main source of energy for the cell.

Symptoms of MT-ATP6 Gene Mitochondrial Complex V (ATP Synthase) Deficiency

MT-ATP6 gene mitochondrial complex V (ATP synthase) deficiency can cause a wide range of symptoms, which can vary in severity from person to person. Some common symptoms of the condition include:

• Weakness and fatigue
• Muscle pain and cramping
• Difficulty walking
• Loss of coordination
• Seizures
• Developmental delay
• Vision and hearing loss

Diagnosis of MT-ATP6 Gene Mitochondrial Complex V (ATP Synthase) Deficiency

MT-ATP6 gene mitochondrial complex V (ATP synthase) deficiency can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a technique that can sequence millions of DNA fragments simultaneously, making it an efficient and cost-effective method for genetic testing. NGS can identify mutations in the MT-ATP6 gene that are associated with mitochondrial complex V deficiency.

To diagnose MT-ATP6 gene mitochondrial complex V (ATP synthase) deficiency, a sample of DNA is collected from the patient, usually through a blood test. The DNA is then sequenced using NGS technology to identify any mutations in the MT-ATP6 gene.

Cost of MT-ATP6 Gene Mitochondrial Complex V (ATP Synthase) Deficiency NGS Genetic DNA Test

The cost of MT-ATP6 gene mitochondrial complex V (ATP synthase) deficiency NGS genetic DNA test can vary depending on the testing facility and location. In India, the cost of the test is typically around INR 20,000. However, it is important to note that this cost may not include any additional fees, such as consultation fees or sample collection fees.

Conclusion

MT-ATP6 gene mitochondrial complex V (ATP synthase) deficiency is a rare genetic disorder that can cause a wide range of symptoms. Genetic testing using NGS technology can help diagnose the condition, with a typical cost of around INR 20,000 in India. If you or a loved one is experiencing symptoms of mitochondrial complex V deficiency, it is important to speak with a medical professional to discuss testing and treatment options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS testing for MT-ATP6 gene mitochondrial complex V (ATP synthase) deficiency. Our team of experienced professionals is dedicated to providing accurate and timely results to help our clients make informed decisions about their health. Contact us today to learn more about our testing services and how we can help you.

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-ATP6 Gene Mitochondrial complex V (ATP synthase) deficiency NGS Genetic DNA Test