Short Description

NGS genetic DNA test detecets for variant and mutation detection in GATA4 gene for Ventricular septal defect type 1

PreTest Information

Clinical History of Patient who is going for GATA4 Gene Ventricular septal defect type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GATA4 Gene Ventricular septal defect type 1 NGS Genetic DNA Test gene GATA4

Detail Description

GATA4 Gene Ventricular Septal Defect Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Ventricular septal defect (VSD) is a heart condition that occurs when there is a hole in the wall (septum) that separates the two lower chambers (ventricles) of the heart. This hole can cause blood to flow from the left ventricle to the right ventricle, leading to complications such as pulmonary hypertension and heart failure.

VSD is a congenital heart defect, which means it is present at birth. It affects approximately 1 in 500 babies born in the United States. There are several types of VSD, and each type can have different symptoms and complications.

One type of VSD is caused by a mutation in the GATA4 gene. The GATA4 gene provides instructions for making a protein that is essential for the development of the heart. Mutations in this gene can disrupt the normal development of the heart and lead to VSD.

Symptoms of GATA4 Gene Ventricular Septal Defect Type 1

The symptoms of GATA4 gene ventricular septal defect type 1 can vary depending on the severity of the defect. Some babies may not show any symptoms, while others may experience:

• Rapid breathing
• Rapid heartbeat
• Difficulty feeding
• Poor weight gain
• Sweating while feeding
• Fatigue
• Bluish tint to the skin, lips, and nails (cyanosis)

If your baby is showing any of these symptoms, it is important to seek medical attention immediately.

Diagnosis of GATA4 Gene Ventricular Septal Defect Type 1

Diagnosis of GATA4 gene ventricular septal defect type 1 is typically made through a physical exam and diagnostic tests, including:

• Echocardiogram
• Electrocardiogram (ECG)
• Chest X-ray
• Magnetic resonance imaging (MRI)
• Computed tomography (CT) scan

These tests can help your doctor determine the size and location of the VSD and the severity of the defect.

NGS Genetic DNA Test for GATA4 Gene Ventricular Septal Defect Type 1

A next-generation sequencing (NGS) genetic DNA test can be used to confirm a diagnosis of GATA4 gene ventricular septal defect type 1. This test analyzes the DNA sequence of the GATA4 gene to identify any mutations that may be causing the defect.

The cost of an NGS genetic DNA test for GATA4 gene ventricular septal defect type 1 in India is approximately INR 20,000.

Conclusion

GATA4 gene ventricular septal defect type 1 is a rare but serious congenital heart defect. If you suspect that your baby may have this condition, it is important to seek medical attention immediately. A diagnosis can be made through a physical exam and diagnostic tests, including an NGS genetic DNA test. While the cost of this test may be high, it can provide valuable information that can help your doctor develop an effective treatment plan for your baby.