Cranioectodermal Dysplasia (CED), also known as Sensenbrenner syndrome, is a rare genetic disorder that affects multiple parts of the body including the skeleton, skin, and kidneys. Type 3 of this condition, specifically associated with mutations in the IFT43 gene, is a focus of interest for both medical professionals and families affected by the disorder. DNA Labs UAE offers a comprehensive genetic test for those who are concerned about this condition, providing crucial information for diagnosis and management.
Understanding Cranioectodermal Dysplasia Type 3
Cranioectodermal Dysplasia Type 3 is a form of the disease that is caused by mutations in the IFT43 gene. This gene plays a significant role in the development and function of cilia, which are small hair-like structures on the surface of cells. The mutations lead to abnormal cilia function, which affects various systems in the body, leading to the symptoms associated with the condition.
Symptoms of IFT43 Gene Cranioectodermal Dysplasia Type 3
The symptoms of Cranioectodermal Dysplasia Type 3 can vary widely among affected individuals but generally include a combination of skeletal, craniofacial, skin, and renal abnormalities. Some of the key symptoms include:
- Narrow and elongated head shape (dolichocephaly)
- Widely spaced eyes (hypertelorism)
- Low-set ears
- Short ribs, leading to a narrow chest
- Short stature
- Abnormalities in the fingers and toes, such as polydactyly or syndactyly
- Skin abnormalities, including dry and scaly skin
- Kidney problems, which can range from mild to severe
It is important to note that the severity and combination of symptoms can vary greatly among individuals.
IFT43 Gene Cranioectodermal Dysplasia Type 3 Genetic Test
For families with a history of Cranioectodermal Dysplasia or those who have a child showing symptoms of the condition, genetic testing can provide definitive answers. DNA Labs UAE offers a genetic test specifically designed to identify mutations in the IFT43 gene associated with Type 3 of the condition. This test is a critical step in confirming the diagnosis, which can then guide further management and treatment strategies.
Test Cost
The cost of the IFT43 Gene Cranioectodermal Dysplasia Type 3 Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value it provides in terms of accurate diagnosis and the potential to guide effective management and treatment strategies is invaluable for affected families.
Why Choose DNA Labs UAE?
DNA Labs UAE is a leading provider of genetic testing services in the region. With state-of-the-art technology and a team of experienced geneticists and counselors, DNA Labs UAE offers accurate, reliable, and confidential testing services. The lab is committed to providing support and guidance to families throughout the testing process, ensuring that they have the information and resources they need to make informed decisions about their health and care.
For more information about the IFT43 Gene Cranioectodermal Dysplasia Type 3 Genetic Test and to schedule a consultation, please visit DNA Labs UAE.
