Short Description

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

PreTest Information

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

Detail Description

Understanding RET Gene and Hirschsprung Disease: NGS Genetic DNA Test Cost in India

Hirschsprung disease is a rare genetic disorder that affects the large intestine or colon. It is caused by a mutation in the RET gene, which is responsible for the development of the enteric nervous system, a complex network of nerves that controls the movement of the digestive tract. Hirschsprung disease is characterized by an absence of ganglion cells in the colon, which results in chronic constipation, abdominal distension, and other symptoms.

Symptoms of Hirschsprung Disease

The symptoms of Hirschsprung disease usually appear shortly after birth, although some children may not show any signs until later in life. The most common symptoms of Hirschsprung disease include:

• Chronic constipation
• Abdominal distension or swelling
• Vomiting
• Poor appetite or feeding difficulties
• Delayed growth or failure to thrive
• Diarrhea or foul-smelling stools
• Rectal prolapse or the protrusion of the rectum through the anus

If left untreated, Hirschsprung disease can cause serious complications, such as enterocolitis, a life-threatening inflammation of the intestines, and bowel obstruction, which requires emergency medical treatment.

Diagnosis of Hirschsprung Disease

Diagnosing Hirschsprung disease can be challenging, as the symptoms can be similar to other digestive disorders, such as irritable bowel syndrome or inflammatory bowel disease. In most cases, the diagnosis is made based on a combination of clinical history, physical examination, and specialized tests, such as:

• Anorectal manometry, which measures the pressure in the rectum and anus
• Barium enema, which involves the use of a contrast material to visualize the colon on an X-ray
• Rectal biopsy, which involves the removal of a small tissue sample from the rectum for examination under a microscope

NGS Genetic DNA Test for Hirschsprung Disease

Next-generation sequencing (NGS) is a powerful genetic testing technology that can identify mutations in the RET gene associated with Hirschsprung disease. NGS can analyze multiple genes simultaneously, providing a comprehensive picture of an individual's genetic makeup and the risk of developing Hirschsprung disease or other genetic disorders.

The cost of NGS genetic DNA testing for Hirschsprung disease in India varies depending on the provider and the specific test ordered. However, on average, the cost of NGS genetic DNA testing for Hirschsprung disease ranges from INR 15,000 to INR 25,000.

Conclusion

Hirschsprung disease is a rare genetic disorder that can cause chronic constipation, abdominal distension, and other symptoms. NGS genetic DNA testing can identify mutations in the RET gene associated with Hirschsprung disease, providing an accurate diagnosis and personalized treatment plan. If you or your child is experiencing symptoms of Hirschsprung disease, it is essential to seek medical attention promptly and consider genetic testing to determine the underlying cause of the condition.

At DNA Labs India, we offer advanced NGS genetic DNA testing for Hirschsprung disease and other genetic disorders. Contact us today to learn more about our services and how we can help you.