Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIK3CA gene for Cowden syndrome type 5

PreTest Information

Clinical History of Patient who is going for PIK3CA Gene Cowden syndrome type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIK3CA Gene Cowden syndrome type 5 NGS Genetic DNA Test gene PIK3CA

Detail Description

PIK3CA Gene Cowden Syndrome Type 5 NGS Genetic DNA Test Cost: INR 20,000 - Symptoms and Diagnosis

Cowden Syndrome Type 5 is a rare genetic disorder that is caused by a mutation in the PIK3CA gene. This gene provides instructions for making an enzyme that plays a critical role in regulating cell growth and division. When this gene is mutated, it can lead to the growth of tumors and other abnormal growths in various parts of the body.

NGS Genetic DNA testing is a powerful tool that can help diagnose Cowden Syndrome Type 5. This test works by sequencing the entire PIK3CA gene and identifying any mutations that may be present. The test can be performed on a blood or tissue sample and typically takes about 2-3 weeks for results to be returned.

Symptoms of Cowden Syndrome Type 5

The symptoms of Cowden Syndrome Type 5 can vary widely depending on the individual. Some common symptoms include:

• Skin abnormalities, such as warts, skin tags, and dark spots
• Thyroid abnormalities, such as an enlarged thyroid gland or thyroid nodules
• Breast abnormalities, such as lumps or cysts
• Gastrointestinal abnormalities, such as polyps in the colon or small intestine
• Brain abnormalities, such as seizures or developmental delays

It's important to note that not everyone with Cowden Syndrome Type 5 will experience all of these symptoms. Some individuals may only have one or two of these symptoms, while others may have several.

Diagnosis of Cowden Syndrome Type 5

Diagnosing Cowden Syndrome Type 5 can be challenging, as the symptoms can be quite varied and may not appear until later in life. However, if you are experiencing any of the symptoms listed above, it's important to speak with your doctor. They may recommend genetic testing to determine if you have a mutation in the PIK3CA gene.

The NGS Genetic DNA test for Cowden Syndrome Type 5 typically costs around INR 20,000. While this may seem like a significant expense, it's important to remember that early diagnosis and treatment can help prevent more serious complications from developing later on.

Conclusion

If you are experiencing any of the symptoms of Cowden Syndrome Type 5, it's important to speak with your doctor. They can help determine if genetic testing is necessary and can refer you to a specialist for further evaluation and treatment. While the cost of NGS Genetic DNA testing may seem high, it's important to remember that early diagnosis and treatment can help prevent more serious complications from developing later on.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA testing for Cowden Syndrome Type 5. Our team of highly trained professionals is committed to providing accurate and timely results, and we are dedicated to helping our patients lead healthy, happy lives. 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 PIK3CA Gene Cowden syndrome type 5 NGS Genetic DNA Test