Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP5F1A gene for Mitochondrial complex V deficiency, nuclear type 4

PreTest Information

Clinical History of Patient who is going for ATP5F1A Gene Mitochondrial complex V deficiency, nuclear type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP5F1A Gene Mitochondrial complex V deficiency, nuclear type 4

Detail Description

ATP5F1A Gene Mitochondrial Complex V Deficiency, Nuclear Type 4 NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis

DNA Labs India offers cutting-edge NGS genetic DNA testing for ATP5F1A gene mitochondrial complex V deficiency, nuclear type 4. This test helps diagnose patients with this condition, which is characterized by a severe deficiency in the activity of mitochondrial complex V. This results in a reduction in the production of ATP, the main source of energy for the body's cells. The test costs INR 20,000.

Symptoms

ATP5F1A gene mitochondrial complex V deficiency, nuclear type 4 is a rare condition that can cause a variety of symptoms, including:

• Severe developmental delay
• Weakness and low muscle tone
• Difficulty with walking and balance
• Seizures
• Respiratory problems
• Heart abnormalities

These symptoms usually become apparent during infancy or early childhood.

Diagnosis

Diagnosis of ATP5F1A gene mitochondrial complex V deficiency, nuclear type 4 can be difficult, as symptoms can be similar to those of other conditions. However, genetic testing can help confirm a diagnosis.

The NGS genetic DNA test offered by DNA Labs India can identify mutations in the ATP5F1A gene that are associated with this condition. The test involves sequencing the entire ATP5F1A gene to identify any mutations that may be present.

If a patient is diagnosed with ATP5F1A gene mitochondrial complex V deficiency, nuclear type 4, further testing may be necessary to determine the extent of the condition and the best course of treatment.

Cost

The cost of the ATP5F1A gene mitochondrial complex V deficiency, nuclear type 4 NGS genetic DNA test at DNA Labs India is INR 20,000. This includes sequencing of the entire ATP5F1A gene and interpretation of the results by a team of experienced genetic counselors and medical professionals.

While this cost may seem high, it is important to remember that genetic testing can provide valuable information about a patient's health and can help guide treatment decisions. Additionally, early diagnosis of ATP5F1A gene mitochondrial complex V deficiency, nuclear type 4 can lead to earlier intervention and better outcomes for patients.

Conclusion

If you or a loved one is experiencing symptoms of ATP5F1A gene mitochondrial complex V deficiency, nuclear type 4, genetic testing may be necessary to confirm a diagnosis. DNA Labs India offers state-of-the-art NGS genetic DNA testing for this condition at a cost of INR 20,000. Contact us today to learn more about this test and how it can help guide treatment decisions.

Remember, early diagnosis and intervention can make a significant difference in the outcomes of patients with ATP5F1A gene mitochondrial complex V deficiency, nuclear type 4.

ATP5F1A is a gene that encodes a subunit of ATP synthase, a protein complex in the mitochondria that plays a crucial role in cellular energy production. Mutations in the ATP5F1A gene can lead to mitochondrial complex V deficiency, which is a condition characterized by impaired ATP synthesis and energy production.

Genetic testing for ATP5F1A mutations can help diagnose mitochondrial complex V deficiency, specifically the nuclear type 4. This type of testing typically involves targeted sequencing or next-generation sequencing of the ATP5F1A gene to identify any genetic variations that may be causing the disorder.

If you or someone you know is suspected to have mitochondrial complex V deficiency or another genetic disorder, it's recommended to consult with a medical geneticist or genetic counselor. They can provide information about the genetic testing process, interpretation of results, and any potential treatment options or management strategies available for the condition.