Symptoms and Testing information for IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or Without Polydactyly Genetic Test

Symptoms and Testing information for IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or Without Polydactyly Genetic Test

Understanding the genetic underpinnings of rare diseases is essential for diagnosis, management, and treatment. One such condition is Short-Rib Thoracic Dysplasia Type 10 with or Without Polydactyly (SRTD10), which is caused by mutations in the IFT172 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or Without Polydactyly Genetic Test. This test is pivotal for families seeking answers to complex genetic questions related to this rare disorder.

Symptoms of IFT172 Gene Short-Rib Thoracic Dysplasia Type 10

Short-Rib Thoracic Dysplasia Type 10 (SRTD10) is a condition marked by several distinct physical features and health issues. The primary characteristic is a narrow chest, which can lead to respiratory difficulties. The condition may also include:

  • Polydactyly – the presence of extra fingers or toes.
  • Shortened bones in the arms and legs, leading to a dwarfism phenotype.
  • Renal anomalies, which can affect kidney function.
  • Retinal dystrophy, potentially leading to visual impairment.
  • Developmental delays and intellectual disability in some cases.

These symptoms can vary significantly from one individual to another, even among those with the same genetic mutation. Early diagnosis through genetic testing is crucial for managing the condition and improving the quality of life for affected individuals.

IFT172 Genetic Test at DNA Labs UAE

DNA Labs UAE offers a specialized genetic test for diagnosing Short-Rib Thoracic Dysplasia Type 10 with or Without Polydactyly. This test specifically looks for mutations in the IFT172 gene, which have been linked to the condition. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in our state-of-the-art laboratory.

The cost of the IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or Without Polydactyly Genetic Test is 4400 AED. This comprehensive test is an investment in understanding the genetic basis of the condition, which can inform treatment plans and provide valuable information for family planning.

Why Choose DNA Labs UAE?

DNA Labs UAE is committed to providing accurate, timely, and confidential genetic testing services. Our laboratory is equipped with the latest technology, and our team of experts is dedicated to delivering the highest quality care. We understand the emotional and financial stress associated with rare genetic conditions, which is why we offer support throughout the testing process.

For more information about the IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or Without Polydactyly Genetic Test and to schedule your appointment, please visit our website at https://dnalabsuae.com.

Conclusion

Genetic testing plays a crucial role in the diagnosis and management of rare conditions like Short-Rib Thoracic Dysplasia Type 10. DNA Labs UAE is proud to offer the IFT172 genetic test, providing families with the information they need to make informed decisions about their health. With our expert team and cutting-edge technology, we are dedicated to advancing the field of genetic testing and improving outcomes for individuals with rare genetic conditions.

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