Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATPAF2 gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

PreTest Information

Clinical History of Patient who is going for ATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Detail Description

ATPAF2 Gene Mitochondrial Complex V Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

ATPAF2 gene mitochondrial complex V deficiency is a rare genetic disorder that affects the function of the ATP synthase enzyme. This enzyme is responsible for producing ATP, the energy currency of the cell, in the mitochondria. The deficiency of this enzyme can lead to a variety of symptoms and health problems.

Symptoms of ATPAF2 Gene Mitochondrial Complex V Deficiency

The symptoms of ATPAF2 gene mitochondrial complex V deficiency can vary widely depending on the severity of the deficiency. Some of the common symptoms include:

• Developmental delay
• Muscle weakness
• Low muscle tone
• Difficulty swallowing
• Seizures

Diagnosis of ATPAF2 Gene Mitochondrial Complex V Deficiency

Diagnosing ATPAF2 gene mitochondrial complex V deficiency can be challenging because it is a rare disorder. However, genetic testing can help diagnose the disorder accurately. Next-generation sequencing (NGS) genetic DNA test is a reliable and accurate method to diagnose rare genetic disorders. It involves sequencing the entire genome or specific genes to identify any mutations that may be causing the disorder.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA test in India varies depending on the laboratory and the specific test being conducted. However, DNA Labs India offers affordable and reliable genetic testing services to help diagnose rare genetic disorders like ATPAF2 gene mitochondrial complex V deficiency. The cost of NGS genetic DNA test for ATPAF2 gene mitochondrial complex V deficiency at DNA Labs India is INR 20,000.

Conclusion

ATPAF2 gene mitochondrial complex V deficiency is a rare genetic disorder that can cause a variety of symptoms and health problems. Genetic testing, specifically NGS genetic DNA test, is a reliable and accurate method to diagnose the disorder. DNA Labs India offers affordable and reliable genetic testing services to help diagnose rare genetic disorders like ATPAF2 gene mitochondrial complex V deficiency.

ATPAF2 gene is responsible for encoding a protein that plays a crucial role in the structure and function of the mitochondrial ATP synthase complex. The ATP synthase complex is a critical enzyme complex located in the inner mitochondrial membrane, responsible for generating adenosine triphosphate (ATP), which is the primary energy currency of cells.

Mutations in the ATPAF2 gene can lead to a specific type of mitochondrial disease known as "Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1." This genetic condition is characterized by a dysfunction in the ATP synthase complex, leading to impaired energy production in cells. Clinical manifestations of this disorder can vary widely and may include symptoms such as muscle weakness, developmental delay, intellectual disability, seizures, and other neurological and metabolic abnormalities.

Genetic testing using NGS (Next-Generation Sequencing) can help identify mutations in the ATPAF2 gene and provide a definitive diagnosis for individuals suspected of having Mitochondrial Complex V Deficiency. This information is crucial for understanding the underlying genetic cause of the disorder and guiding medical management and treatment options.

If you or someone you know is suspected to have Mitochondrial Complex V Deficiency due to ATPAF2 gene mutations, it's recommended to consult with a medical geneticist, genetic counselor, or healthcare provider experienced in mitochondrial disorders. They can provide information about the testing process, interpretation of results, and potential treatment options or interventions.