Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCO2 gene for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency

PreTest Information

Clinical History of Patient who is going for SCO2 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SCO2 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency NGS Genetic DNA Test gene SCO2

Detail Description

SCO2 Gene Cardioencephalomyopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

SCO2 gene cardioencephalomyopathy is a rare genetic disorder that affects infants and young children. It is caused by a deficiency in cytochrome c oxidase, which is an enzyme that is essential for the production of energy in cells. This deficiency can lead to a range of symptoms, including muscle weakness, neurological problems, and heart failure.

Symptoms of SCO2 Gene Cardioencephalomyopathy

The symptoms of SCO2 gene cardioencephalomyopathy can vary depending on the severity of the deficiency. In some cases, symptoms may be present at birth, while in others, they may not appear until later in infancy or childhood. Some of the most common symptoms of this disorder include:

• Muscle weakness and low muscle tone
• Developmental delays
• Seizures or other neurological problems
• Respiratory problems
• Heart failure or other cardiac problems
• Lactic acidosis (a buildup of lactic acid in the blood)

Diagnosis of SCO2 Gene Cardioencephalomyopathy

Diagnosing SCO2 gene cardioencephalomyopathy can be challenging, as the symptoms can be similar to those of other disorders. However, there are several tests that can be used to diagnose this condition, including:

• Genetic testing: This involves analyzing a sample of the patient's DNA to look for mutations in the SCO2 gene.
• Blood tests: These can be used to measure levels of lactic acid and other markers of mitochondrial dysfunction.
• Electrocardiogram (ECG) or echocardiogram: These tests can be used to assess heart function and detect any abnormalities.
• Muscle biopsy: This involves taking a small sample of muscle tissue to look for signs of mitochondrial dysfunction.

NGS Genetic DNA Test Cost for SCO2 Gene Cardioencephalomyopathy

The cost of NGS genetic DNA testing for SCO2 gene cardioencephalomyopathy in India is typically around INR 20,000. This test involves sequencing the patient's DNA to look for mutations in the SCO2 gene. It is a highly accurate and reliable test that can help to confirm a diagnosis of this disorder.

Conclusion

SCO2 gene cardioencephalomyopathy is a rare but serious genetic disorder that can cause a range of symptoms, including muscle weakness, neurological problems, and heart failure. Diagnosis can be challenging, but genetic testing and other diagnostic tests can help to confirm a diagnosis. The cost of NGS genetic DNA testing for SCO2 gene cardioencephalomyopathy in India is typically around INR 20,000, and this test can provide valuable information for patients and their families.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for SCO2 gene cardioencephalomyopathy. Contact us today to learn more about our services and how we can help you.