Short Description

NGS genetic DNA test detecets for variant and mutation detection in GATA6 gene for Atrioventricular septal defect type 5

PreTest Information

Clinical History of Patient who is going for GATA6 Gene Atrioventricular septal defect type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GATA6 Gene Atrioventricular septal defect type 5 NGS Genetic DNA Test gene GATA6

Detail Description

GATA6 Gene Atrioventricular Septal Defect Type 5 NGS Genetic DNA Test Cost INR:20,000 Symptoms Diagnosis

GATA6 gene is responsible for encoding the protein that regulates the expression of other genes during embryonic development. It has been linked to various congenital heart defects, including atrioventricular septal defect (AVSD) type 5.

AVSD type 5 is a rare congenital heart defect that affects the structure of the heart. It is caused by a mutation in the GATA6 gene and is characterized by a hole in the center of the heart, which allows blood to flow between the chambers that should be separate.

Symptoms of AVSD type 5

The symptoms of AVSD type 5 vary depending on the severity of the defect. Some common symptoms include:

• Rapid breathing
• Difficulty breathing
• Difficulty feeding
• Poor weight gain
• Swelling in the legs, feet, or abdomen
• Blue tint to the skin
• Irritability

Diagnosis of AVSD type 5

The diagnosis of AVSD type 5 is usually made during pregnancy or shortly after birth. Doctors may use various tests to diagnose the condition, including:

• Echocardiogram
• Electrocardiogram
• X-rays
• Magnetic resonance imaging (MRI)

NGS Genetic DNA Test

The NGS Genetic DNA Test is a diagnostic test that uses next-generation sequencing (NGS) technology to analyze the DNA sequence of a patient. This test can help identify mutations in the GATA6 gene that may be responsible for AVSD type 5.

The cost of the NGS Genetic DNA Test for AVSD type 5 is INR 20,000. This test is available at DNA Labs India, a leading genetics laboratory in India.

Conclusion

AVSD type 5 is a rare congenital heart defect that is caused by a mutation in the GATA6 gene. The symptoms of this condition can vary depending on the severity of the defect. The NGS Genetic DNA Test is a diagnostic test that can help identify mutations in the GATA6 gene. DNA Labs India offers this test at a cost of INR 20,000.

If you or someone you know is experiencing symptoms of AVSD type 5, it is important to seek medical attention immediately. Early diagnosis and treatment can help improve outcomes for patients with this condition.

For more information on the NGS Genetic DNA Test and other genetic testing services, please visit DNA Labs India's website.