Short Description

NGS genetic DNA test detecets for variant and mutation detection in SDHD gene for Cowden syndrome type 3

PreTest Information

Clinical History of Patient who is going for SDHD Gene Cowden syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SDHD Gene Cowden syndrome type 3 NGS Genetic DNA Test gene SDHD

Detail Description

SDHD Gene Cowden Syndrome Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Cowden syndrome is a rare genetic disorder that causes an increased risk of developing certain types of tumors. It affects multiple organs, including the skin, thyroid, and digestive tract. Cowden syndrome is caused by mutations in several genes, including the SDHD gene.

SDHD gene Cowden syndrome type 3 is a specific subtype of Cowden syndrome caused by mutations in the SDHD gene. This subtype is characterized by an increased risk of developing paragangliomas, which are tumors that arise from specialized cells in the nervous system.

Symptoms of SDHD Gene Cowden Syndrome Type 3

The symptoms of SDHD gene Cowden syndrome type 3 can vary widely from person to person. Some individuals may experience few or no symptoms, while others may develop multiple tumors throughout their lifetime. Common symptoms of SDHD gene Cowden syndrome type 3 include:

• Paragangliomas (tumors in the nervous system)
• Thyroid nodules or cancer
• Facial trichilemmomas (small skin tumors)
• Acral keratoses (thick, scaly patches on the hands and feet)
• Macrocephaly (an abnormally large head)
• Lhermitte-Duclos disease (a rare brain tumor)
• Gastrointestinal polyps (growths in the digestive tract)

Diagnosis of SDHD Gene Cowden Syndrome Type 3

If you have a family history of Cowden syndrome or have symptoms of the condition, your doctor may recommend genetic testing to look for mutations in the SDHD gene. This test involves taking a blood or saliva sample and analyzing it for changes in the DNA sequence.

If a mutation is found, your doctor may recommend additional tests to screen for tumors and other health problems associated with SDHD gene Cowden syndrome type 3. These tests may include:

• Thyroid ultrasound
• Gastrointestinal endoscopy
• MRI of the brain
• 24-hour urine collection for catecholamines and metanephrines (to screen for paragangliomas)

NGS Genetic DNA Test Cost INR:20000

The cost of an NGS genetic DNA test for SDHD gene Cowden syndrome type 3 in India is approximately INR 20,000. This test is typically not covered by insurance and may be an out-of-pocket expense for patients.

Conclusion

SDHD gene Cowden syndrome type 3 is a rare genetic disorder that increases the risk of developing paragangliomas and other health problems. If you have a family history of Cowden syndrome or are experiencing symptoms of the condition, talk to your doctor about genetic testing and screening options. While the cost of NGS genetic DNA testing may be a concern, early detection and treatment can help improve outcomes and quality of life for individuals with SDHD gene Cowden syndrome type 3.

At DNA Labs India, we offer a range of genetic testing services to help diagnose and manage genetic conditions like SDHD gene Cowden syndrome type 3. Contact us today to learn more about our services and how we can help you.