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EDNRB Gene Hirschsprung disease NGS Genetic DNA Test Cost 20000 Rs
EDNRB Gene Hirschsprung disease NGS Genetic DNA Test Details
EDNRB Gene Hirschsprung Disease NGS Genetic DNA Test Cost: INR 20,000
EDNRB gene is a protein-coding gene that plays a crucial role in the development of the enteric nervous system. Mutations in this gene are associated with Hirschsprung disease, a rare congenital disorder that affects the large intestine. Hirschsprung disease is characterized by the absence of ganglion cells in the colon, which results in the inability to pass stool normally. It affects approximately 1 in 5,000 newborns and is more common in males than females.
Symptoms of Hirschsprung Disease
The symptoms of Hirschsprung disease can vary depending on the severity of the condition. Some common symptoms include:
- Difficulty passing stool
- Constipation
- Abdominal distension
- Vomiting
- Delayed passage of meconium (the first stool passed by a newborn)
- Foul-smelling, explosive stools
- Failure to thrive (poor growth and development)
Diagnosis of Hirschsprung Disease
The diagnosis of Hirschsprung disease involves a combination of clinical evaluation, imaging tests, and biopsy. Some common diagnostic tests for Hirschsprung disease include:
- Abdominal X-ray
- Barium enema
- Anorectal manometry
- Rectal biopsy
NGS Genetic DNA Test for Hirschsprung Disease
Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can be used to identify genetic mutations associated with Hirschsprung disease. The EDNRB gene is one of the genes that can be analyzed using NGS technology. The NGS genetic DNA test for Hirschsprung disease can help identify mutations in the EDNRB gene that may be causing the condition.
Cost of NGS Genetic DNA Test for Hirschsprung Disease
The cost of the NGS genetic DNA test for Hirschsprung disease in India is around INR 20,000. The cost may vary depending on the laboratory and the specific tests performed.
Conclusion
The EDNRB gene plays a crucial role in the development of the enteric nervous system and mutations in this gene are associated with Hirschsprung disease. The symptoms of Hirschsprung disease can vary but can be identified through a combination of clinical evaluation, imaging tests, and biopsy. The NGS genetic DNA test for Hirschsprung disease can help identify mutations in the EDNRB gene that may be causing the condition. The cost of the NGS genetic DNA test for Hirschsprung disease in India is around INR 20,000.
It is important to consult a genetic counselor or a healthcare professional if you suspect that you or your child may have Hirschsprung disease or if you have a family history of the condition.
At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for Hirschsprung disease. Our team of experienced geneticists and counselors can help you understand your genetic risk for Hirschsprung disease and provide guidance on appropriate treatment options. Contact us today to learn more.
