Short Description

NGS genetic DNA test detecets for variant and mutation detection in GATA6 gene for Pancreatic agenesis and congenital heart defects

PreTest Information

Clinical History of Patient who is going for GATA6 Gene Pancreatic agenesis and congenital heart defects NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GATA6 Gene Pancreatic agenesis and congenital heart defects NGS Genetic DNA Test gene GATA6

Detail Description

GATA6 Gene: Pancreatic Agenesis and Congenital Heart Defects NGS Genetic DNA Test

Genetic testing has revolutionized the field of medicine, especially in the case of rare genetic disorders. One such disorder is pancreatic agenesis, which is characterized by the absence of the pancreas or a significant reduction in its size. Congenital heart defects are also often associated with this disorder. These conditions have been found to be linked to mutations in the GATA6 gene. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test to diagnose these disorders.

Symptoms of Pancreatic Agenesis and Congenital Heart Defects

The symptoms of pancreatic agenesis and congenital heart defects vary depending on the severity of the condition. In some cases, the symptoms may be mild, while in others, they may be life-threatening. Some of the common symptoms of pancreatic agenesis include:

• Diabetes mellitus
• Weight loss
• Abdominal pain
• Diarrhea
• Malabsorption

Congenital heart defects may cause symptoms such as:

• Cyanosis (bluish skin color)
• Shortness of breath
• Fatigue
• Swelling in the legs, abdomen, or areas around the eyes
• Poor growth or development

Diagnosis of Pancreatic Agenesis and Congenital Heart Defects

Diagnosis of pancreatic agenesis and congenital heart defects involves a combination of physical examination, imaging tests, and genetic testing. Imaging tests, such as ultrasound, magnetic resonance imaging (MRI), and computed tomography (CT) scans, can help to visualize the pancreas and heart and identify any abnormalities. Genetic testing can help to identify mutations in the GATA6 gene that are linked to these disorders.

NGS Genetic DNA Test for GATA6 Gene

DNA Labs India offers an NGS Genetic DNA Test for the GATA6 gene. This test can identify mutations in the GATA6 gene that are associated with pancreatic agenesis and congenital heart defects. The test uses state-of-the-art technology to analyze the entire GATA6 gene, which allows for the detection of even rare mutations. The test is highly sensitive and specific, making it an excellent choice for diagnosing these disorders.

Cost of the NGS Genetic DNA Test

The cost of the NGS Genetic DNA Test for the GATA6 gene at DNA Labs India is INR 20000. This is an affordable price for a test that can provide valuable information about these rare genetic disorders.

Conclusion

Pancreatic agenesis and congenital heart defects are rare genetic disorders that are linked to mutations in the GATA6 gene. DNA Labs India offers an NGS Genetic DNA Test that can diagnose these disorders with high accuracy. The test is affordable and provides valuable information that can help patients and their families make informed decisions about their health. If you or someone you know is experiencing symptoms of pancreatic agenesis or congenital heart defects, talk to your doctor about genetic testing today.