Short Description

NGS genetic DNA test detecets for variant and mutation detection in COA5 gene for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3

PreTest Information

Clinical History of Patient who is going for COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 NGS Genetic DNA Test gene COA5

Detail Description

COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 is a rare genetic disorder that affects the functioning of the cytochrome c oxidase enzyme. This enzyme is responsible for producing energy in our cells. The disorder is characterized by severe muscle weakness, developmental delays, and brain abnormalities. It usually presents in infancy and has a high mortality rate.

A genetic DNA test is available to diagnose COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3. This test uses Next Generation Sequencing (NGS) technology to analyze a patient's DNA and identify any mutations in the COA5 gene. The test can be performed on blood or saliva samples and costs INR 20000.

Symptoms of COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3

• Severe muscle weakness
• Developmental delays
• Brain abnormalities
• Respiratory problems
• Feeding difficulties
• Seizures

Diagnosis of COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3

Diagnosis of COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 is typically done through genetic DNA testing. A blood or saliva sample is taken from the patient and analyzed using NGS technology to identify any mutations in the COA5 gene. Other diagnostic tests may be done to rule out other conditions with similar symptoms.

Conclusion

COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 is a rare genetic disorder that affects the functioning of the cytochrome c oxidase enzyme. A genetic DNA test using NGS technology is available to diagnose the condition. The test costs INR 20000 and can be performed on blood or saliva samples. If you suspect that you or a loved one may have this condition, it is important to seek medical attention and undergo testing for an accurate diagnosis.