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Accurate Test Results for JUP Gene Arrhythmogenic right ventricular cardiomyopathy type 12 NGS Genetic DNA Test
JUP Gene Arrhythmogenic right ventricular cardiomyopathy type 12 NGS Genetic DNA Test Cost 20000 Rs
JUP Gene Arrhythmogenic right ventricular cardiomyopathy type 12 NGS Genetic DNA Test Details
JUP Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 12 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a rare genetic disorder that affects the heart muscles. The disease is characterized by the replacement of the right ventricular myocardium with fibrous or fatty tissue, leading to arrhythmias, heart failure, and sudden cardiac death. ARVC is a hereditary disease, and it can be passed down from one generation to another through specific genes. One such gene that has been found to be associated with ARVC is the JUP gene.
JUP Gene and ARVC Type 12
The JUP gene is located on chromosome 17 and is responsible for encoding the protein plakoglobin. Plakoglobin is a component of the desmosome, a structure that connects cardiac cells and helps maintain the integrity of the heart muscle. Mutations in the JUP gene can lead to the production of abnormal plakoglobin, which can cause the cells of the heart muscle to detach and die, leading to ARVC. ARVC caused by mutations in the JUP gene is known as ARVC type 12.
Symptoms of ARVC Type 12
The symptoms of ARVC type 12 are similar to those of other types of ARVC. Some of the common symptoms include:
- Heart palpitations
- Shortness of breath
- Fainting or dizziness
- Chest pain
- Heart murmurs
- Sudden cardiac arrest or death
However, the severity and progression of the symptoms can vary among individuals, and some people may remain asymptomatic for a long time.
Diagnosis of ARVC Type 12
Diagnosis of ARVC type 12 involves a combination of clinical evaluation, imaging tests, and genetic testing. The doctor may perform a physical exam to check for signs of heart abnormalities, such as heart murmurs or an irregular heartbeat. Imaging tests, such as electrocardiogram (ECG), echocardiogram, and cardiac MRI, can help visualize the structure and function of the heart and detect any abnormalities.
Genetic testing is an essential part of the diagnosis of ARVC type 12, as it can confirm the presence of mutations in the JUP gene. Next-generation sequencing (NGS) is a powerful tool that can sequence multiple genes simultaneously and detect even low-frequency mutations. NGS-based genetic testing can provide accurate and comprehensive results and help identify the specific mutation causing ARVC type 12.
Cost of JUP Gene ARVC Type 12 NGS Genetic DNA Test
The cost of JUP gene ARVC type 12 NGS genetic DNA test in India is around INR 20,000. The cost may vary depending on the location, laboratory, and additional services included in the test. However, it is essential to note that genetic testing can provide valuable information that can help diagnose and manage ARVC type 12, potentially preventing life-threatening complications.
Conclusion
ARVC type 12 is a rare genetic disorder that can cause arrhythmias, heart failure, and sudden cardiac death. The JUP gene has been found to be associated with ARVC type 12, and genetic testing can help identify the specific mutation causing the disease. NGS-based genetic testing can provide accurate and comprehensive results and help diagnose and manage ARVC type 12. The cost of JUP gene ARVC type 12 NGS genetic DNA test in India is around INR 20,000, and it can be a valuable investment in preventing life-threatening complications.
At DNA Labs India, we offer a range of genetic tests, including NGS-based genetic testing for ARVC type 12. Our tests are performed by experienced and certified geneticists using state-of-the-art equipment and technology. Contact us today to learn more about our genetic testing services and how we can help you diagnose and manage genetic diseases like ARVC type 12.
