Short Description

NGS genetic DNA test detecets for variant and mutation detection in TNNI3 gene for Cardiomyopathy, familial restrictive type 1

PreTest Information

Clinical History of Patient who is going for TNNI3 Gene Cardiomyopathy, familial restrictive type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TNNI3 Gene Cardiomyopathy, familial restrictive type 1 NGS Genetic DNA Test gene TNNI3

Detail Description

TNNI3 Gene Cardiomyopathy, Familial Restrictive Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Cardiomyopathy is a condition that affects the heart muscles, making it difficult for the heart to pump blood effectively. There are different types of cardiomyopathy, and one of them is the familial restrictive type 1. This type of cardiomyopathy is caused by a genetic mutation in the TNNI3 gene.

The TNNI3 gene provides instructions for making a protein called troponin I. This protein is found in the heart muscle and is involved in regulating the contraction and relaxation of the heart muscles. Mutations in the TNNI3 gene can disrupt the normal function of the troponin I protein, leading to the development of familial restrictive cardiomyopathy.

Symptoms of TNNI3 Gene Cardiomyopathy

The symptoms of familial restrictive cardiomyopathy can vary from person to person. Some people may not experience any symptoms, while others may have severe symptoms that can affect their daily activities. Some common symptoms of TNNI3 gene cardiomyopathy include:

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

Diagnosis of TNNI3 Gene Cardiomyopathy

TNNI3 gene cardiomyopathy is diagnosed through genetic testing. A sample of blood or saliva is collected from the patient, and the DNA is analyzed to look for mutations in the TNNI3 gene. If a mutation is found, the patient may be diagnosed with familial restrictive cardiomyopathy.

In addition to genetic testing, other tests may be performed to evaluate the heart function, such as echocardiogram, electrocardiogram, and cardiac MRI.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA test for TNNI3 gene cardiomyopathy in India is INR 20,000. This cost may vary depending on the laboratory and the location.

Conclusion

TNNI3 gene cardiomyopathy is a rare genetic condition that can affect the heart function. It is important to be aware of the symptoms and get timely diagnosis and treatment. Genetic testing can help identify the genetic mutation responsible for the condition, and appropriate medical management can help improve the patient's quality of life. The cost of NGS genetic DNA test for TNNI3 gene cardiomyopathy in India is INR 20,000.

If you suspect that you or a family member may have familial restrictive cardiomyopathy, consult a healthcare provider for further evaluation and management.