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POLR1C Gene Treacher Collins syndrome type 3 NGS Genetic DNA Test Cost 20000 Rs
POLR1C Gene Treacher Collins syndrome type 3 NGS Genetic DNA Test Details
POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test
Treacher Collins Syndrome (TCS) is a genetic disorder that affects the development of facial bones and tissues. It is caused by mutations in different genes, including the POLR1C gene. TCS is a rare condition, affecting 1 in 50,000 live births. It is characterized by a range of symptoms, including hearing loss, breathing difficulties, and abnormal facial features.
What is the POLR1C Gene?
The POLR1C gene provides instructions for making a protein that is involved in the formation of ribosomes, which are cellular structures that help to produce proteins. Mutations in the POLR1C gene have been identified as a cause of TCS type 3, which is a rare form of TCS.
Symptoms of TCS Type 3
The symptoms of TCS type 3 can vary from person to person, but they typically include:
- Abnormal facial features, such as a small jaw, underdeveloped cheekbones, and downward-slanting eyes
- Hearing loss, which can range from mild to severe
- Breathing difficulties, which can be life-threatening in severe cases
- Speech problems, including difficulty producing certain sounds
- Dental abnormalities, such as missing or misshapen teeth
Diagnosis of TCS Type 3
TCS type 3 is typically diagnosed through a combination of physical examination, medical history, and genetic testing. In some cases, imaging tests such as CT scans may also be used to evaluate the facial bones and tissues. Genetic testing can confirm a diagnosis of TCS type 3 by identifying mutations in the POLR1C gene.
NGS Genetic DNA Test for TCS Type 3
Next-generation sequencing (NGS) is a powerful genetic testing technology that can identify mutations in multiple genes simultaneously. This makes it an ideal tool for diagnosing rare genetic disorders such as TCS type 3. NGS testing for TCS type 3 involves analyzing the DNA of the patient for mutations in the POLR1C gene.
Cost of NGS Genetic DNA Test for TCS Type 3
The cost of NGS genetic testing for TCS type 3 can vary depending on the testing facility and location. In India, the cost of this test typically ranges from INR 15,000 to INR 25,000.
Conclusion
Treacher Collins Syndrome type 3 is a rare genetic disorder caused by mutations in the POLR1C gene. The symptoms of this condition can vary from person to person, but they typically involve abnormal facial features, hearing loss, and breathing difficulties. Diagnosis of TCS type 3 involves a combination of physical examination, medical history, and genetic testing. NGS genetic testing is a powerful tool for diagnosing TCS type 3, and the cost of this test in India typically ranges from INR 15,000 to INR 25,000.
If you suspect that you or someone you know may have TCS type 3, it is important to consult with a genetic counselor or healthcare provider for proper diagnosis and management of the condition.
At DNA Labs India, we offer NGS genetic testing for TCS type 3, as well as a range of other genetic disorders. Contact us today to learn more about our genetic testing services.
