Short Description

NGS genetic DNA test detecets for variant and mutation detection in CRYAB gene for Cardiomyopathy, dilated type 1

PreTest Information

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

Detail Description

CRYAB Gene Cardiomyopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Cardiomyopathy is a disease that affects the heart muscle, making it harder for it to pump blood to the rest of the body. One type of cardiomyopathy is dilated cardiomyopathy, which occurs when the heart becomes enlarged and weakened. This condition can be caused by a number of factors, including genetics. One gene that has been linked to dilated cardiomyopathy is the CRYAB gene.

What is the CRYAB Gene?

The CRYAB gene is responsible for producing a protein called alpha-B crystallin. This protein helps to protect the heart muscle cells from damage caused by stress. However, mutations in the CRYAB gene can lead to the production of a faulty protein that does not function properly. This can cause damage to the heart muscle cells and lead to dilated cardiomyopathy.

Symptoms of CRYAB Gene Cardiomyopathy

The symptoms of CRYAB gene cardiomyopathy are similar to those of other types of dilated cardiomyopathy. These can include:

• Shortness of breath
• Fatigue
• Chest pain
• Swelling in the legs, ankles, or feet
• Rapid or irregular heartbeat

It is important to note that not everyone with a mutation in the CRYAB gene will develop dilated cardiomyopathy, and not everyone with dilated cardiomyopathy will have a mutation in the CRYAB gene.

Diagnosis of CRYAB Gene Cardiomyopathy

Diagnosing CRYAB gene cardiomyopathy can be challenging, as the symptoms can be similar to those of other types of dilated cardiomyopathy. However, genetic testing can be used to identify mutations in the CRYAB gene. This can be done using next-generation sequencing (NGS) technology.

NGS genetic testing is a high-throughput method that can sequence millions of DNA fragments at once. This allows for the identification of mutations in multiple genes at the same time. NGS testing can be done using a blood sample, and the results can be available within a few weeks.

Cost of NGS Genetic DNA Test for CRYAB Gene Cardiomyopathy in India

The cost of NGS genetic DNA testing for CRYAB gene cardiomyopathy in India can vary depending on the provider. However, on average, the cost of this test is around INR 20,000.

It is important to note that genetic testing for CRYAB gene cardiomyopathy may not be covered by insurance. Patients should check with their insurance provider to determine if this type of testing is covered.

Conclusion

CRYAB gene cardiomyopathy is a type of dilated cardiomyopathy that can be caused by mutations in the CRYAB gene. Symptoms of this condition can include shortness of breath, fatigue, chest pain, and swelling in the legs, ankles, or feet. Diagnosis can be challenging, but NGS genetic testing can be used to identify mutations in the CRYAB gene. The cost of this test in India is around INR 20,000. Patients should check with their insurance provider to determine if genetic testing for CRYAB gene cardiomyopathy is covered.

Early diagnosis of CRYAB gene cardiomyopathy can lead to better outcomes, as patients can receive appropriate treatment and management. If you are experiencing symptoms of dilated cardiomyopathy, it is important to speak with a healthcare professional to determine the underlying cause and develop a treatment plan.

Mutations in the CRYAB gene have been associated with a specific type of dilated cardiomyopathy known as Dilated Cardiomyopathy Type 1 (CMD1). Dilated cardiomyopathy is a condition characterized by the enlargement of the heart chambers and reduced pumping ability, which can lead to heart failure and other cardiac complications.