Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP5F1A gene for Combined oxidative phosphorylation deficiency type 22

PreTest Information

Clinical History of Patient who is going for ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 22

Detail Description

ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22: Symptoms, Diagnosis, and DNA Test Cost

ATP5F1A gene combined oxidative phosphorylation deficiency type 22 is a rare genetic disorder that affects the energy production process in the body. This disorder is caused by mutations in the ATP5F1A gene, which is responsible for the production of ATP synthase, a protein that plays a vital role in the production of energy in the mitochondria.

The symptoms of this disorder can vary from mild to severe and can include:

• Developmental delays
• Intellectual disability
• Seizures
• Weakness and fatigue
• Respiratory problems
• Muscle pain and weakness
• Speech difficulties

Diagnosis of ATP5F1A gene combined oxidative phosphorylation deficiency type 22 can be challenging as the symptoms can be similar to other disorders. However, a genetic test can confirm the presence of mutations in the ATP5F1A gene.

NGS genetic DNA testing is one of the most advanced genetic testing methods available today. It uses next-generation sequencing technology to analyze the DNA sequence and identify mutations in the ATP5F1A gene. This test is highly accurate and can detect even the smallest mutations in the gene.

The cost of an NGS genetic DNA test for ATP5F1A gene combined oxidative phosphorylation deficiency type 22 in India is approximately INR 20,000. This cost may vary depending on the laboratory and location.

If you or someone you know is experiencing symptoms of ATP5F1A gene combined oxidative phosphorylation deficiency type 22, it is essential to seek medical attention and consider genetic testing. Early diagnosis and treatment can improve the quality of life for those affected by this disorder.

At DNA Labs India, we offer NGS genetic DNA testing for ATP5F1A gene combined oxidative phosphorylation deficiency type 22. Our testing process is highly accurate and reliable, and our team of experts is dedicated to providing personalized service to our clients.