Short Description

NGS genetic DNA test detecets for variant and mutation detection in GATA6 gene for Atrial septal defect type 9

PreTest Information

Clinical History of Patient who is going for GATA6 Gene Atrial septal defect type 9 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GATA6 Gene Atrial septal defect type 9 NGS Genetic DNA Test gene GATA6

Detail Description

GATA6 Gene Atrial Septal Defect Type 9 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Atrial septal defect (ASD) is a congenital heart defect that affects the septum between the two atria of the heart. Atrial septal defect type 9 (ASD9) is a rare subtype of ASD that is caused by mutations in the GATA6 gene. This gene provides instructions for making a protein that is essential for the development of the heart and other organs.

ASD9 is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated GATA6 gene to develop the condition. However, many people with ASD9 have no family history of the condition, which suggests that it can also occur spontaneously.

Symptoms of ASD9

ASD9 can cause a wide range of symptoms, from mild to severe. Some people with ASD9 may have no symptoms at all, while others may experience:

• Shortness of breath
• Fatigue
• Frequent respiratory infections
• Irritability
• Poor weight gain
• Heart palpitations
• Cyanosis (a blue tint to the skin)

Diagnosis of ASD9

ASD9 can be diagnosed through a variety of tests, including:

• Echocardiogram: This test uses sound waves to create images of the heart.
• Electrocardiogram (ECG or EKG): This test measures the electrical activity of the heart.
• Chest X-ray: This test can show the size and shape of the heart.
• Cardiac MRI: This test uses magnetic fields to create images of the heart.

In addition, a genetic test can be used to confirm the diagnosis of ASD9. Next-generation sequencing (NGS) is a type of genetic test that can analyze multiple genes at once, making it a more efficient and cost-effective option than traditional genetic testing methods.

Cost of the ASD9 Genetic DNA Test

The cost of the ASD9 genetic DNA test at DNA Labs India is INR 20,000. This cost includes the NGS analysis of the GATA6 gene, as well as genetic counseling and interpretation of the test results.

Conclusion

ASD9 is a rare subtype of atrial septal defect that is caused by mutations in the GATA6 gene. It can cause a wide range of symptoms, from mild to severe. Diagnosis of ASD9 can be confirmed through a variety of tests, including genetic testing using NGS. The cost of the ASD9 genetic DNA test at DNA Labs India is INR 20,000.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GATA6 Gene Atrial septal defect type 9 NGS Genetic DNA Test