Short Description

NGS genetic DNA test detecets for variant and mutation detection in EDN3 gene for Hirschsprung disease

PreTest Information

Clinical History of Patient who is going for EDN3 Gene Hirschsprung disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EDN3 Gene Hirschsprung disease NGS Genetic DNA Test gene EDN3

Detail Description

EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test

Hirschsprung disease, also known as congenital megacolon, is a rare congenital disorder that affects the large intestine (colon) and causes problems with bowel movements. The disease is caused by a genetic mutation that affects the development of the enteric nervous system, which controls the muscles that move food through the digestive tract. One of the genes associated with Hirschsprung disease is the EDN3 gene.

Symptoms of Hirschsprung Disease

The symptoms of Hirschsprung disease can vary depending on the severity and extent of the condition. Some of the common symptoms include:

• Constipation or difficulty passing stool
• Abdominal distension or swelling
• Vomiting
• Delayed growth or failure to thrive
• Diarrhea or foul-smelling stools

Diagnosis of Hirschsprung Disease

The diagnosis of Hirschsprung disease typically involves a combination of medical history, physical examination, and diagnostic tests. Some of the tests that may be used to diagnose Hirschsprung disease include:

• Barium enema
• Anorectal manometry
• Rectal biopsy
• Colonoscopy

EDN3 Gene and Hirschsprung Disease

EDN3 gene mutations are associated with Hirschsprung disease. The EDN3 gene provides instructions for making a protein called endothelin 3, which is involved in the development of the enteric nervous system. Mutations in the EDN3 gene can disrupt the production or function of endothelin 3, leading to abnormalities in the enteric nervous system and the development of Hirschsprung disease.

NGS Genetic DNA Test for Hirschsprung Disease

Next-generation sequencing (NGS) is a powerful genetic testing technology that can be used to identify mutations in the EDN3 gene and other genes associated with Hirschsprung disease. The NGS genetic DNA test for Hirschsprung disease can help diagnose the condition, guide treatment decisions, and provide valuable information for family planning.

Cost of NGS Genetic DNA Test for Hirschsprung Disease in India

The cost of NGS genetic DNA test for Hirschsprung disease in India can vary depending on the laboratory and the specific test being performed. However, on average, the cost of the test is around INR 20,000.

Conclusion

Hirschsprung disease is a rare congenital disorder that can be caused by mutations in the EDN3 gene. The NGS genetic DNA test for Hirschsprung disease can help diagnose the condition and guide treatment decisions. If you or a loved one is experiencing symptoms of Hirschsprung disease, it is important to consult with a healthcare provider and consider genetic testing.

For more information on NGS genetic DNA testing for Hirschsprung disease, contact DNA Labs India.