Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTO1 gene for Combined oxidative phosphorylation deficiency type 10

PreTest Information

Clinical History of Patient who is going for MTO1 Gene Combined oxidative phosphorylation deficiency type 10 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 10

Detail Description

MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

DNA Labs India provides an advanced genetic testing service that helps diagnose various genetic disorders, including Combined Oxidative Phosphorylation Deficiency Type 10 (COXPD10). The MTO1 gene is responsible for the production of a protein that is essential for the proper functioning of the mitochondria, which are the powerhouses of the cells. COXPD10 is a rare genetic disorder that affects the ability of the mitochondria to produce energy, leading to severe symptoms.

Symptoms of COXPD10

The symptoms of COXPD10 can vary depending on the severity of the condition. Some common symptoms include:

• Developmental delay
• Speech impairment
• Weakness
• Difficulty breathing
• Seizures

In severe cases, COXPD10 can lead to early death.

Diagnosis of COXPD10

COXPD10 is diagnosed through genetic testing. The MTO1 gene is analyzed using Next-Generation Sequencing (NGS) technology to identify any mutations or abnormalities. This test can be performed on a blood sample or a saliva sample.

If you or your child are experiencing any of the symptoms of COXPD10, it is important to speak to a medical professional. A genetic counselor can help determine if genetic testing is necessary.

Cost of COXPD10 Genetic Testing

The cost of COXPD10 genetic testing at DNA Labs India is INR 20000. This includes the cost of the test kit, sample collection, and analysis. The results of the test are usually available within 2-3 weeks.

Conclusion

COXPD10 is a rare genetic disorder that can have severe symptoms. Genetic testing is an important tool for diagnosing this condition and providing appropriate treatment. DNA Labs India offers advanced genetic testing services, including COXPD10 testing, at an affordable cost. Speak to a medical professional if you are experiencing any symptoms of COXPD10 or if you have any concerns about your genetic health.