Short Description

NGS genetic DNA test detecets for variant and mutation detection in MT-ATP8 gene for Cardiomyopathy, infantile hypertrophic, MT-ATP8 related

PreTest Information

Clinical History of Patient who is going for MT-ATP8 Gene Cardiomyopathy, infantile hypertrophic, MT-ATP8 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MT-ATP8 Gene Cardiomyopathy, infantile hypertrophic, MT-ATP8 related NGS Genetic DNA Test gene MT-ATP8

Detail Description

MT-ATP8 Gene Cardiomyopathy in Infants: Symptoms, Diagnosis, and Genetic Testing

Infantile hypertrophic cardiomyopathy (HCM) is a rare form of heart disease that affects babies and young children. It is caused by mutations in the mitochondrial DNA (mtDNA) that affect the functioning of the heart muscle. One of the genes that has been implicated in infantile HCM is the MT-ATP8 gene. This gene provides instructions for making a protein that is involved in the production of energy in the mitochondria. Mutations in this gene can disrupt the energy production process, leading to the development of cardiomyopathy.

Symptoms of MT-ATP8 Gene Cardiomyopathy

The symptoms of infantile HCM can vary depending on the severity of the disease. In some cases, babies may appear healthy at birth but develop symptoms later on. Some common signs of infantile HCM include:

• Rapid breathing
• Fatigue and weakness
• Poor feeding
• Low blood pressure
• Enlarged heart
• Irregular heartbeat

It is important to note that these symptoms can also be caused by other conditions, so it is important to get a proper diagnosis.

Diagnosis of MT-ATP8 Gene Cardiomyopathy

Infantile HCM can be diagnosed through a combination of physical exams, medical history, and diagnostic tests. Doctors may use an echocardiogram to get a closer look at the heart and determine if there are any abnormalities. They may also perform an electrocardiogram (ECG) to measure the electrical activity of the heart.

In some cases, genetic testing may be recommended to determine if there are any mutations in the MT-ATP8 gene or other genes associated with infantile HCM. This type of testing can provide important information about the cause of the disease and help guide treatment decisions.

Genetic Testing for MT-ATP8 Gene Cardiomyopathy

Next-generation sequencing (NGS) is a type of genetic testing that can be used to identify mutations in the MT-ATP8 gene and other genes associated with infantile HCM. This type of testing is highly accurate and can provide results in a relatively short amount of time.

At DNA Labs India, we offer NGS genetic testing for MT-ATP8 gene cardiomyopathy at a cost of INR 20,000. Our testing process is fast, accurate, and reliable, and our team of experts is available to answer any questions you may have about the testing process or your results.

Conclusion

MT-ATP8 gene cardiomyopathy is a rare form of heart disease that can affect infants and young children. Symptoms can vary, but may include rapid breathing, fatigue, and an enlarged heart. Diagnosis can be made through a combination of physical exams and diagnostic tests, and genetic testing may be recommended to identify mutations in the MT-ATP8 gene or other genes associated with the disease. At DNA Labs India, we offer NGS genetic testing for MT-ATP8 gene cardiomyopathy at a cost of INR 20,000. Contact us today to learn more about our testing process and how we can help you get the answers you need.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MT-ATP8 Gene Cardiomyopathy, infantile hypertrophic, MT-ATP8 related NGS Genetic DNA Test