Short Description

NGS genetic DNA test detecets for variant and mutation detection in ELN gene for Supravalvar aortic stenosis

PreTest Information

Clinical History of Patient who is going for ELN Gene Supravalvar aortic stenosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ELN Gene Supravalvar aortic stenosis NGS Genetic DNA Test gene ELN

Detail Description

ELN Gene Supravalvar Aortic Stenosis NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis

Supravalvar aortic stenosis (SVAS) is a rare congenital heart disease that affects the aorta, the main artery that carries blood from the heart to the rest of the body. The ELN gene mutation has been identified as one of the genetic causes of SVAS. Early diagnosis and treatment are crucial in managing SVAS. DNA Labs India offers an NGS genetic DNA test for ELN Gene Supravalvar Aortic Stenosis at a cost of INR 20000. This blog will discuss the symptoms and diagnosis of ELN Gene Supravalvar Aortic Stenosis.

Symptoms of ELN Gene Supravalvar Aortic Stenosis

The symptoms of ELN Gene Supravalvar Aortic Stenosis can vary from person to person. Some of the common symptoms include:

• Chest pain or discomfort
• Shortness of breath
• Fatigue
• Dizziness or lightheadedness
• Fainting

In some cases, there may be no symptoms present, and the condition may only be detected through medical tests.

Diagnosis of ELN Gene Supravalvar Aortic Stenosis

The diagnosis of ELN Gene Supravalvar Aortic Stenosis involves a thorough physical examination and medical tests. The doctor may ask about the patient's medical history and symptoms. The physical examination may involve listening to the patient's heart and checking for any abnormalities.

The medical tests that may be performed to diagnose ELN Gene Supravalvar Aortic Stenosis include:

• Echocardiogram: This test uses sound waves to produce images of the heart and blood vessels to check for any abnormalities.
• Electrocardiogram (ECG): This test measures the electrical activity of the heart and can detect any abnormal rhythms.
• Cardiac catheterization: This test involves inserting a thin, flexible tube into a blood vessel and guiding it to the heart to measure blood pressure and check for any blockages or abnormalities.

If ELN Gene Supravalvar Aortic Stenosis is suspected, a genetic test may be recommended to check for the ELN gene mutation.

NGS Genetic DNA Test for ELN Gene Supravalvar Aortic Stenosis

DNA Labs India offers an NGS genetic DNA test for ELN Gene Supravalvar Aortic Stenosis at a cost of INR 20000. This test uses next-generation sequencing (NGS) technology to analyze the patient's DNA for the ELN gene mutation. The test is non-invasive and requires only a blood sample.

The test results can help in the early diagnosis and treatment of ELN Gene Supravalvar Aortic Stenosis. Early diagnosis and treatment can help in managing the symptoms and preventing complications.

Conclusion

ELN Gene Supravalvar Aortic Stenosis is a rare congenital heart disease that can be caused by a genetic mutation in the ELN gene. Early diagnosis and treatment are crucial in managing the symptoms and preventing complications. DNA Labs India offers an NGS genetic DNA test for ELN Gene Supravalvar Aortic Stenosis at a cost of INR 20000, which can help in the early diagnosis and treatment of the condition.

If you suspect that you or your loved one may have ELN Gene Supravalvar Aortic Stenosis, it is important to consult a doctor and get the necessary medical tests done.