Short Description

NGS genetic DNA test detecets for variant and mutation detection in MCTP2 gene for Coarctation of the aorta

PreTest Information

Clinical History of Patient who is going for MCTP2 Gene Coarctation of the aorta NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MCTP2 Gene Coarctation of the aorta NGS Genetic DNA Test gene MCTP2

Detail Description

MCTP2 Gene Coarctation of the Aorta NGS Genetic DNA Test

Coarctation of the aorta is a congenital heart defect that is caused by a narrowing of the aorta. This narrowing can cause high blood pressure and put a strain on the heart. The MCTP2 gene has been associated with coarctation of the aorta, and testing for this gene can help with diagnosis and treatment.

Symptoms of Coarctation of the Aorta

The symptoms of coarctation of the aorta can vary depending on the severity of the narrowing. Some common symptoms include:

• High blood pressure
• Chest pain
• Shortness of breath
• Fatigue
• Dizziness
• Fainting

It is important to note that some people with coarctation of the aorta may not experience any symptoms.

Diagnosis of Coarctation of the Aorta

Coarctation of the aorta can be diagnosed through a physical exam and imaging tests such as echocardiography, CT scan, or MRI. Genetic testing can also be used to help with diagnosis.

MCTP2 Gene

The MCTP2 gene has been associated with coarctation of the aorta. This gene provides instructions for making a protein that is involved in the development and function of the heart. Mutations in the MCTP2 gene can disrupt the normal development of the heart and lead to coarctation of the aorta.

NGS Genetic DNA Test

The NGS (Next Generation Sequencing) Genetic DNA Test is a type of genetic testing that can help with the diagnosis of coarctation of the aorta. This test analyzes a person's DNA to look for mutations in the MCTP2 gene that may be causing the condition.

Cost of the NGS Genetic DNA Test

The cost of the NGS Genetic DNA Test for coarctation of the aorta is INR 20,000.

Conclusion

Coarctation of the aorta can be a serious condition that requires prompt diagnosis and treatment. Testing for mutations in the MCTP2 gene can help with diagnosis and inform treatment decisions. The NGS Genetic DNA Test is a valuable tool in the diagnosis of coarctation of the aorta, and it is available at DNA Labs India for a cost of INR 20,000.