Short Description

NGS genetic DNA test detecets for variant and mutation detection in COX6B1 gene for Mitochondrial complex IV deficiency

PreTest Information

Clinical History of Patient who is going for COX6B1 Gene Mitochondrial complex IV deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COX6B1 Gene Mitochondrial complex IV deficiency

Detail Description

COX6B1 Gene Mitochondrial Complex IV Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

COX6B1 gene is responsible for encoding a protein that is a subunit of the mitochondrial complex IV. This complex plays a crucial role in the electron transport chain, which is responsible for producing energy in the form of ATP. Mitochondrial complex IV deficiency caused by mutations in the COX6B1 gene leads to a wide range of symptoms, which can be diagnosed through NGS genetic DNA testing. This blog will discuss the symptoms, diagnosis, and cost of the COX6B1 gene mitochondrial complex IV deficiency NGS genetic DNA test in India.

Symptoms

The symptoms of COX6B1 gene mitochondrial complex IV deficiency vary widely and can affect multiple organ systems. Some of the common symptoms include:

• Developmental delay
• Weakness and fatigue
• Seizures
• Difficulty in breathing
• Heart disease
• Liver dysfunction
• Visual impairment

The severity of the symptoms can vary from mild to severe and can present at any age, from infancy to adulthood.

Diagnosis

The diagnosis of COX6B1 gene mitochondrial complex IV deficiency is based on clinical symptoms and genetic testing. NGS genetic DNA testing is the most effective way to identify the underlying genetic cause of the disorder. This test analyzes the entire DNA sequence of an individual and can identify mutations in the COX6B1 gene.

The NGS genetic DNA test is a simple and painless procedure that involves collecting a sample of blood or saliva from the patient. The sample is sent to a specialized laboratory, where it is analyzed using advanced sequencing technology. The results of the test are usually available within a few weeks.

Cost

The cost of the COX6B1 gene mitochondrial complex IV deficiency NGS genetic DNA test in India is approximately INR 20000. This cost may vary depending on the laboratory and location where the test is performed. Some insurance companies may cover the cost of the test, so it is important to check with your insurance provider.

Conclusion

COX6B1 gene mitochondrial complex IV deficiency is a rare genetic disorder that can cause a wide range of symptoms. NGS genetic DNA testing is the most effective way to diagnose this condition. The cost of the test in India is approximately INR 20000. If you or a loved one is experiencing symptoms of this disorder, it is important to seek medical attention and discuss the possibility of genetic testing with a healthcare professional.