Short Description

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

PreTest Information

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

Detail Description

DNA Labs India: Understanding NRTN Gene and Hirschsprung Disease

Hirschsprung disease is a rare congenital disorder that affects the large intestine. It is caused by the absence of nerve cells in the lower part of the intestine, which leads to difficulties in passing stool. This condition is often diagnosed in infancy and early childhood.

Recent studies have shown that a mutation in the NRTN gene is one of the causes of Hirschsprung disease. The NRTN gene provides instructions for making a protein that supports the growth and survival of nerve cells. A mutation in this gene can disrupt the development and function of nerve cells in the intestine, leading to Hirschsprung disease.

Symptoms of Hirschsprung Disease

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

• Difficulty passing stool
• Abdominal swelling
• Constipation
• Diarrhea
• Vomiting

In severe cases, Hirschsprung disease can lead to serious complications such as enterocolitis, a life-threatening inflammation of the intestine.

Diagnosis of Hirschsprung Disease

Hirschsprung disease is typically diagnosed through a combination of physical examination, medical history, and tests. Some of the common diagnostic tests include:

• Barium enema: A special X-ray test that uses a contrast material to highlight the intestine.
• Anorectal manometry: A test that measures the pressure in the rectum and anal sphincter muscles.
• Rectal biopsy: A procedure that involves taking a small tissue sample from the rectum to examine under a microscope.

NGS Genetic DNA Test for Hirschsprung Disease

NGS Genetic DNA Test is a highly advanced genetic test that can detect mutations in the NRTN gene. This test involves sequencing the DNA of the patient to identify any mutations that may be causing Hirschsprung disease. The NGS Genetic DNA Test can provide accurate and reliable results, which can help in the diagnosis and treatment of Hirschsprung disease.

Cost of NGS Genetic DNA Test for Hirschsprung Disease

The cost of NGS Genetic DNA Test for Hirschsprung disease at DNA Labs India is INR 20,000. This test is conducted by highly trained and experienced geneticists using state-of-the-art equipment and technology. The results of the test are provided within a few weeks.

Conclusion

Hirschsprung disease is a rare congenital disorder that can cause significant discomfort and complications. The NGS Genetic DNA Test is a highly advanced test that can help in the diagnosis and treatment of Hirschsprung disease. At DNA Labs India, we offer the NGS Genetic DNA Test for Hirschsprung disease at an affordable cost, providing accurate and reliable results to our patients.

For more information about the NGS Genetic DNA Test for Hirschsprung disease, please contact DNA Labs India.

Thank you for reading!

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for NRTN Gene Hirschsprung disease NGS Genetic DNA Test