Short Description

NGS genetic DNA test detecets for variant and mutation detection in NRG1 gene for Hirschsprung disease

PreTest Information

Clinical History of Patient who is going for NRG1 Gene Hirschsprung disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NRG1 Gene Hirschsprung disease NGS Genetic DNA Test gene NRG1

Detail Description

NRG1 Gene and Hirschsprung Disease: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Genetic testing has become an integral part of diagnosing and treating diseases. With the advent of Next Generation Sequencing (NGS) technology, it is now possible to sequence a large number of genes in a short span of time and at a reasonable cost. One such gene that has gained attention in recent years is the NRG1 gene, which has been linked to Hirschsprung disease.

What is Hirschsprung disease?

Hirschsprung disease is a rare condition that affects the large intestine. It is caused by the absence of nerve cells in the lower part of the intestine, which leads to a blockage. This blockage can cause severe constipation, abdominal pain, and other digestive problems. The condition is usually diagnosed in infancy or early childhood, but in some cases, it may not be diagnosed until adulthood.

What is the NRG1 gene?

The NRG1 gene is located on chromosome 8 and is responsible for producing a protein called neuregulin-1. This protein plays an essential role in the development of the nervous system, including the neurons that control the movement of the digestive tract. Mutations in the NRG1 gene have been linked to Hirschsprung disease.

Symptoms of Hirschsprung disease

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

• Chronic constipation
• Abdominal distension
• Difficulty passing stools
• Diarrhea
• Vomiting
• Slow growth

Diagnosis of Hirschsprung disease

The diagnosis of Hirschsprung disease usually involves a combination of physical examination, medical history, and tests. Some of the common tests used to diagnose the condition include:

• Rectal biopsy: A small sample of tissue is taken from the rectum and examined under a microscope to look for the absence of nerve cells.
• Barium enema: A contrast material is inserted into the rectum, and X-rays are taken to look for any blockages in the large intestine.
• Anorectal manometry: A small tube is inserted into the rectum to measure the pressure and function of the muscles in the anus and rectum.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing in India varies depending on the laboratory and the number of genes sequenced. The cost of sequencing the NRG1 gene for Hirschsprung disease is approximately INR 20,000. However, the cost may vary depending on the laboratory and the type of test performed.

Conclusion

Hirschsprung disease is a rare condition that can cause severe digestive problems. The NRG1 gene has been linked to the condition, and NGS genetic DNA testing can help diagnose the condition early. The cost of sequencing the NRG1 gene for Hirschsprung disease is approximately INR 20,000, making it an affordable option for those who suspect they may have the condition.

At DNA Labs India, we provide NGS genetic DNA testing for a wide range of conditions, including Hirschsprung disease. Contact us today to learn more about our services and how we can help you.

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 NRG1 Gene Hirschsprung disease NGS Genetic DNA Test