Short Description

NGS genetic DNA test detecets for variant and mutation detection in POLR1D gene for Treacher Collins syndrome type 2

PreTest Information

Clinical History of Patient who is going for POLR1D Gene Treacher Collins syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POLR1D Gene Treacher Collins syndrome type 2 NGS Genetic DNA Test gene POLR1D

Detail Description

POLR1D Gene Treacher Collins Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Treacher Collins Syndrome is a rare genetic disorder that affects the development of bones and tissues in the face. It is caused by mutations in different genes, including the POLR1D gene. POLR1D gene mutations are associated with Treacher Collins Syndrome Type 2, a severe form of the disorder.

NGS (Next Generation Sequencing) Genetic DNA Testing is a powerful tool used to identify genetic mutations that cause different diseases, including Treacher Collins Syndrome. The POLR1D gene NGS Genetic DNA Test is a specific test that helps diagnose Treacher Collins Syndrome Type 2.

Symptoms of Treacher Collins Syndrome Type 2

The symptoms of Treacher Collins Syndrome Type 2 are similar to those of other forms of the disorder, but they are more severe. The most common symptoms include:

• Underdeveloped cheekbones
• Small jaw and chin
• Abnormalities of the ears
• Cleft palate
• Abnormalities of the eyes

These symptoms can affect a person's appearance and ability to hear, eat, and breathe. People with Treacher Collins Syndrome Type 2 may also have intellectual disability, developmental delays, and other health problems.

Diagnosis of Treacher Collins Syndrome Type 2

Treacher Collins Syndrome Type 2 is diagnosed based on physical examination and genetic testing. A doctor may perform a physical examination to look for the characteristic facial features of the disorder. Genetic testing, such as the POLR1D gene NGS Genetic DNA Test, can confirm the diagnosis by identifying mutations in the POLR1D gene.

NGS Genetic DNA Test Cost INR:20000

The POLR1D gene NGS Genetic DNA Test cost in India is approximately INR 20000. This test is performed on a blood or saliva sample, and the results are usually available within a few weeks.

Conclusion

Treacher Collins Syndrome Type 2 is a rare genetic disorder that can have severe physical and developmental effects. The POLR1D gene NGS Genetic DNA Test is an important tool for diagnosing this disorder and can help patients and their families understand the cause of their symptoms. If you or a loved one has symptoms of Treacher Collins Syndrome, speak with a doctor about genetic testing and treatment options.

At DNA Labs India, we offer a range of genetic tests to diagnose different disorders, including Treacher Collins Syndrome Type 2. Our tests are performed using the latest technology and are designed to provide accurate and reliable results. Contact us today to learn more about our services and how we can help you.