Short Description

NGS genetic DNA test detecets for variant and mutation detection in GDNF gene for Hirschsprung disease, type 3, susceptibility to

PreTest Information

Clinical History of Patient who is going for GDNF Gene Hirschsprung disease, type 3, susceptibility to NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDNF Gene Hirschsprung disease, type 3, susceptibility to NGS Genetic DNA Test gene GDNF

Detail Description

GDNF Gene Hirschsprung Disease: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Hirschsprung disease, also known as congenital megacolon, is a rare condition that affects the large intestine or colon. This disease occurs when the nerve cells that control the muscles in the colon do not develop properly. As a result, the muscles in the colon cannot relax and move stool through the intestine, leading to constipation, abdominal swelling, and other symptoms.

There are several genes that have been associated with Hirschsprung disease, and one of them is the GDNF gene. This gene provides instructions for making a protein called glial cell line-derived neurotrophic factor, which is essential for the development and survival of nerve cells in the colon.

Symptoms of GDNF Gene Hirschsprung Disease

The symptoms of Hirschsprung disease can vary depending on the severity of the condition. In GDNF gene Hirschsprung disease, the symptoms may be more severe than in other types of the disease. Some of the common symptoms of GDNF gene Hirschsprung disease include:

• Constipation that starts from birth or shortly after
• Abdominal swelling or distension
• Lack of bowel movements in infants
• Difficulty passing stools
• Diarrhea
• Malnutrition
• Vomiting

Diagnosis of GDNF Gene Hirschsprung Disease

Diagnosis of GDNF gene Hirschsprung disease requires a thorough medical history and physical examination. Doctors may also recommend several tests to confirm the diagnosis. Some of the common tests for diagnosing Hirschsprung disease include:

• Anorectal manometry
• Barium enema
• Rectal biopsy
• Colonoscopy

If the diagnosis is confirmed, genetic testing may be recommended to identify the specific gene mutation that causes Hirschsprung disease. This can help in determining the best treatment options and prognosis for the patient.

NGS Genetic DNA Test Cost for GDNF Gene Hirschsprung Disease

Next-generation sequencing (NGS) is a type of genetic test that can be used to detect mutations in the GDNF gene associated with Hirschsprung disease. This test is highly accurate and can identify the specific genetic mutation causing the disease.

The cost of NGS genetic DNA testing for GDNF gene Hirschsprung disease in India is approximately INR 20,000. This cost may vary depending on the laboratory and location of the test.

Conclusion

GDNF gene Hirschsprung disease is a rare genetic condition that can cause severe symptoms in affected individuals. If you or your child is experiencing symptoms of Hirschsprung disease, it is important to seek medical attention and get an accurate diagnosis. Genetic testing, such as NGS DNA testing, can help in identifying the specific gene mutation causing the disease and determining the best treatment options. At DNA Labs India, we offer highly accurate and affordable genetic testing services to help individuals and families get the answers they need.

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 GDNF Gene Hirschsprung disease, type 3, susceptibility to NGS Genetic DNA Test