Short Description

NGS genetic DNA test detecets for variant and mutation detection in BMPR1A gene for Juvenile polyposis syndrome

PreTest Information

Clinical History of Patient who is going for BMPR1A Gene Juvenile polyposis syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BMPR1A Gene Juvenile polyposis syndrome NGS Genetic DNA Test gene BMPR1A

Detail Description

BMPR1A Gene Juvenile Polyposis Syndrome NGS Genetic DNA Test

Juvenile Polyposis Syndrome (JPS) is a rare genetic disorder that causes the development of polyps in the gastrointestinal tract. BMPR1A gene mutation is one of the most common causes of JPS. The BMPR1A gene provides instructions for making a protein that helps control cell growth and division. Mutations in this gene can disrupt the normal functioning of the protein, leading to the formation of polyps.

Symptoms of Juvenile Polyposis Syndrome

The symptoms of JPS vary from person to person. Some individuals may have only a few polyps, while others may have hundreds. Some common symptoms of JPS include:

• Rectal bleeding
• Anemia
• Abdominal pain
• Diarrhea
• Bloating
• Nausea and vomiting

Diagnosis

JPS is diagnosed through a combination of medical history, physical examination, and genetic testing. The doctor will perform a colonoscopy or endoscopy to examine the gastrointestinal tract and look for polyps. The doctor may also recommend a genetic test to identify mutations in the BMPR1A gene.

NGS Genetic DNA Test

Next Generation Sequencing (NGS) is a type of genetic testing that can identify mutations in multiple genes at the same time. NGS is a powerful tool for diagnosing genetic disorders like JPS. The test is performed on a blood or saliva sample and can detect mutations in the BMPR1A gene.

Cost of NGS Genetic DNA Test

The cost of the NGS Genetic DNA Test for BMPR1A Gene Juvenile Polyposis Syndrome in India is INR 20,000. The test is available at DNA Labs India, a leading provider of genetic testing services in the country.

Conclusion

Juvenile Polyposis Syndrome is a rare genetic disorder that can cause serious health problems. The BMPR1A gene mutation is one of the most common causes of JPS. NGS Genetic DNA Test is an effective way to diagnose JPS and identify mutations in the BMPR1A gene. If you are experiencing symptoms of JPS, it is important to talk to your doctor and get tested.