Short Description

NGS genetic DNA test detecets for variant and mutation detection in KIF1BP gene for Hirschsprung disease

PreTest Information

Clinical History of Patient who is going for KIF1BP Gene Hirschsprung disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KIF1BP Gene Hirschsprung disease NGS Genetic DNA Test gene KIF1BP

Detail Description

KIF1BP Gene and Hirschsprung Disease: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Hirschsprung Disease is a rare condition that affects the large intestine or colon. It is caused by the absence of nerve cells in the colon, which makes it difficult for stool to pass through the body. The condition is usually diagnosed in infants and children, but it can also affect adults.

Recent research has linked the KIF1BP gene to Hirschsprung Disease. The KIF1BP gene is responsible for producing a protein that plays a role in nerve cell development. Mutations in this gene can lead to the absence of nerve cells in the colon, which causes Hirschsprung Disease.

Symptoms of Hirschsprung Disease

The symptoms of Hirschsprung Disease can vary depending on the severity of the condition. In infants, symptoms may include:

• Failure to pass meconium within the first 48 hours of life
• Chronic constipation
• Abdominal distension
• Vomiting
• Delayed growth

In older children and adults, symptoms may include:

• Chronic constipation
• Abdominal pain
• Bloating
• Diarrhea
• Foul-smelling stools

Diagnosing Hirschsprung Disease

Hirschsprung Disease is usually diagnosed through a combination of physical exams, medical history, and diagnostic tests. These tests may include:

• Rectal exam
• Barium enema
• Anorectal manometry
• Biopsy

During a biopsy, a small piece of tissue is taken from the colon and examined under a microscope to look for the absence of nerve cells.

NGS Genetic DNA Test Cost for Hirschsprung Disease in India

Next Generation Sequencing (NGS) Genetic DNA testing is a diagnostic tool that can be used to detect mutations in the KIF1BP gene. This test can help diagnose Hirschsprung Disease and provide information about the severity of the condition.

The cost of NGS Genetic DNA testing for Hirschsprung Disease in India can vary depending on the laboratory and the specific tests performed. On average, the cost of this test can range from INR 20,000 to INR 30,000.

Conclusion

Hirschsprung Disease is a rare condition that can cause chronic constipation and other gastrointestinal symptoms. Recent research has linked the KIF1BP gene to this condition, and NGS Genetic DNA testing can help diagnose the condition and provide information about its severity. If you or someone you know is experiencing symptoms of Hirschsprung Disease, it is important to speak with a healthcare provider to receive an accurate diagnosis and appropriate treatment.

At DNA Labs India, we offer NGS Genetic DNA testing for Hirschsprung Disease and other genetic conditions. Our team of experienced healthcare professionals can help diagnose and treat a wide range of genetic disorders. 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 KIF1BP Gene Hirschsprung disease NGS Genetic DNA Test