Short Description

NGS genetic DNA test detecets for variant and mutation detection in ECE1 gene for Hirschsprung disease

PreTest Information

Clinical History of Patient who is going for ECE1 Gene Hirschsprung disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ECE1 Gene Hirschsprung disease NGS Genetic DNA Test gene ECE1

Detail Description

ECE1 Gene Hirschsprung Disease NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Are you worried about your child's symptoms of chronic constipation and abdominal distension? It could be a sign of Hirschsprung disease, a rare genetic disorder that affects the nerves in the colon. The ECE1 gene mutation is one of the identified causes of Hirschsprung disease. To diagnose this condition, a NGS genetic DNA test is required, which costs around INR 20,000 in India.

What is Hirschsprung Disease?

Hirschsprung disease is a condition that affects the large intestine or colon. It occurs when there is a missing nerve cell in the colon that prevents stool from passing through. This results in chronic constipation, abdominal distension, and other symptoms. Hirschsprung disease is a genetic disorder, and mutations in the ECE1 gene are one of the identified causes.

What are the Symptoms of Hirschsprung Disease?

The symptoms of Hirschsprung disease vary depending on the severity of the condition. In newborns, the symptoms may include:

• Failing to pass meconium within the first 48 hours after birth
• Abdominal distension
• Vomiting bile
• Poor feeding

In older children and adults, the symptoms may include:

• Chronic constipation
• Abdominal distension
• Delayed growth and development
• Diarrhea
• Fecal impaction

How is Hirschsprung Disease Diagnosed?

Hirschsprung disease is diagnosed through a combination of physical examination, medical history, and diagnostic tests. A NGS genetic DNA test is required to diagnose the condition. This test analyzes the ECE1 gene mutation to identify if it is present in the individual. The cost of this test is around INR 20,000 in India.

Conclusion

If you suspect that your child has Hirschsprung disease, it is essential to seek medical attention immediately. The condition requires early diagnosis and treatment to prevent complications. A NGS genetic DNA test is required to diagnose the condition, and the cost of this test is around INR 20,000 in India. DNA Labs India provides reliable and accurate genetic testing services to diagnose Hirschsprung disease and other genetic disorders. Contact us today to schedule a consultation.