Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP5F1E gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3

PreTest Information

Clinical History of Patient who is going for ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3

Detail Description

ATP5F1E Gene Mitochondrial Complex V (ATP Synthase) Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

ATP5F1E Gene Mitochondrial Complex V (ATP Synthase) deficiency is a rare genetic disorder that affects the production of ATP (adenosine triphosphate) in the mitochondria. ATP is the primary energy source for most cellular processes, and its deficiency can result in a wide range of symptoms.

Symptoms of ATP5F1E Gene Mitochondrial Complex V Deficiency

The symptoms of ATP5F1E Gene Mitochondrial Complex V deficiency can vary widely from person to person. Some common symptoms include:

• Muscle weakness and fatigue
• Developmental delays
• Intellectual disability
• Speech and language difficulties
• Vision and hearing impairments
• Seizures

Diagnosis of ATP5F1E Gene Mitochondrial Complex V Deficiency

Diagnosis of ATP5F1E Gene Mitochondrial Complex V deficiency involves a combination of clinical examination, genetic testing, and imaging studies. A thorough physical examination is conducted, and the patient's medical history is reviewed. Genetic testing is done to identify mutations in the ATP5F1E gene that are associated with the disorder. Imaging studies, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, may be used to evaluate the brain and other organs for abnormalities.

NGS Genetic DNA Test Cost in India

The cost of NGS Genetic DNA testing for ATP5F1E Gene Mitochondrial Complex V deficiency in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and location.

Conclusion

ATP5F1E Gene Mitochondrial Complex V (ATP Synthase) deficiency is a rare genetic disorder that can have a wide range of symptoms. Diagnosis involves a combination of clinical examination, genetic testing, and imaging studies. NGS Genetic DNA testing for ATP5F1E Gene Mitochondrial Complex V deficiency typically costs around INR 20,000 in India.

If you suspect that you or a loved one may have ATP5F1E Gene Mitochondrial Complex V deficiency, it is important to consult with a healthcare provider for proper diagnosis and treatment.

ATP5F1E is a gene that encodes a subunit of ATP synthase, a protein complex involved in mitochondrial energy production. Mutations in the ATP5F1E gene can lead to mitochondrial complex V deficiency, specifically the nuclear type 3. This deficiency results in impaired ATP synthesis and can cause various symptoms and health issues.

Genetic testing for ATP5F1E mutations involves analyzing the DNA sequence of the ATP5F1E gene to identify any genetic variations that may be contributing to mitochondrial complex V deficiency. This type of testing is typically performed using next-generation sequencing (NGS) technology.

If you suspect mitochondrial complex V deficiency or have concerns about genetic conditions, it's advisable to consult with a medical geneticist or genetic counselor. They can provide guidance on the appropriateness of genetic testing, explain the testing process, and help interpret the results. Additionally, they can discuss potential treatment options and management strategies for individuals affected by this condition.