Short Description

NGS genetic DNA test detecets for variant and mutation detection in TMEM43 gene for Arrhythmogenic right ventricular cardiomyopathy type 5

PreTest Information

Clinical History of Patient who is going for TMEM43 Gene Arrhythmogenic right ventricular cardiomyopathy type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM43 Gene Arrhythmogenic right ventricular cardiomyopathy type 5 NGS Genetic DNA Test gene TMEM43

Detail Description

TMEM43 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 NGS Genetic DNA Test

Arrhythmogenic right ventricular cardiomyopathy type 5, also known as ARVC5, is a rare genetic disorder that affects the heart muscles. It is caused by mutations in the TMEM43 gene, which provides instructions for making a protein that is essential for the normal functioning of heart muscle cells.

Symptoms of ARVC5

The symptoms of ARVC5 can vary widely from person to person. Some people may have no symptoms at all, while others may experience:

• Chest pain
• Shortness of breath
• Fainting or dizziness
• Irregular heartbeat
• Swelling in the legs, ankles, or feet

Diagnosis of ARVC5

Diagnosing ARVC5 can be challenging because the symptoms can be similar to those of other heart conditions. A doctor may perform a physical exam and order tests such as an electrocardiogram (ECG), echocardiogram, or cardiac MRI. Genetic testing can also be used to confirm a diagnosis of ARVC5.

TMEM43 Gene ARVC5 NGS Genetic DNA Test

The TMEM43 Gene ARVC5 NGS Genetic DNA Test is a diagnostic test that analyzes the DNA sequence of the TMEM43 gene. This test can identify mutations in the gene that are associated with ARVC5. The test is performed using next-generation sequencing (NGS) technology, which allows for the analysis of multiple genes at once.

Cost of TMEM43 Gene ARVC5 NGS Genetic DNA Test

The cost of the TMEM43 Gene ARVC5 NGS Genetic DNA Test in India is INR 20,000. This cost may vary depending on the testing facility and any additional tests that may be ordered.

Conclusion

ARVC5 is a rare genetic disorder that can cause serious heart problems. Early diagnosis and treatment are important for managing the condition and preventing complications. The TMEM43 Gene ARVC5 NGS Genetic DNA Test is a valuable tool for diagnosing ARVC5 and providing personalized treatment options for patients.

If you are experiencing symptoms of ARVC5 or have a family history of the condition, talk to your doctor about genetic testing and whether the TMEM43 Gene ARVC5 NGS Genetic DNA Test may be right for you.