In the realm of genetic testing and diagnosis, understanding the nuances of specific syndromes is crucial for effective treatment and management. One such condition that has garnered attention in the medical community is IMAGE Syndrome, a rare disorder associated with mutations in the CDKN1C gene. At DNA Labs UAE, we offer a comprehensive genetic test designed to identify mutations in the CDKN1C gene, providing invaluable information for patients and their families. This article aims to shed light on the symptoms of IMAGE Syndrome, the importance of the CDKN1C gene IMAGE Syndrome Genetic Test, and its cost, which is 4400 AED.
Understanding IMAGE Syndrome
IMAGE Syndrome is an acronym for Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, Genital anomalies, and Enteropathy. This rare genetic disorder is caused by mutations in the CDKN1C gene, which plays a significant role in cell cycle regulation. The syndrome is characterized by a range of clinical manifestations, primarily affecting growth, skeletal development, adrenal gland function, genitalia, and the gastrointestinal system.
Symptoms of IMAGE Syndrome
The symptoms of IMAGE Syndrome can vary widely among affected individuals but typically include the following:
- Intrauterine growth restriction (IUGR): Affected infants are often born smaller than average for their gestational age.
- Metaphyseal dysplasia: This refers to abnormalities in the growth plates of bones, leading to skeletal dysplasia and short stature.
- Adrenal hypoplasia congenita: This condition involves underdeveloped adrenal glands, which can result in adrenal insufficiency and a potentially life-threatening adrenal crisis.
- Genital anomalies: Males may present with undescended testes (cryptorchidism) or hypospadias, while females might have abnormalities in the development of the genital tract.
- Enteropathy: Affected individuals may experience gastrointestinal issues, including feeding difficulties, reflux, and in some cases, villous atrophy.
Early diagnosis and management of these symptoms are crucial for improving the quality of life of individuals with IMAGE Syndrome.
The CDKN1C Gene IMAGE Syndrome Genetic Test
At DNA Labs UAE, we offer a specialized genetic test that targets the CDKN1C gene, aiming to identify mutations associated with IMAGE Syndrome. This test is a vital tool for diagnosing the condition, particularly in individuals who present with the syndrome’s characteristic symptoms. By understanding the genetic basis of IMAGE Syndrome, healthcare providers can tailor treatment and management strategies to address the specific needs of affected individuals.
Test Cost
The cost of the CDKN1C gene IMAGE Syndrome Genetic Test at DNA Labs UAE is 4400 AED. While the price may seem substantial, the value it provides in terms of accurate diagnosis, potential treatment options, and family planning cannot be overstated. Genetic counseling is also recommended as part of the testing process to help patients and families understand the results and implications of the test.
Conclusion
IMAGE Syndrome is a complex condition that requires a comprehensive approach to diagnosis and management. The CDKN1C gene IMAGE Syndrome Genetic Test offered by DNA Labs UAE represents a crucial step in identifying affected individuals and providing them with the care and support they need. If you or someone you know may be affected by IMAGE Syndrome, we encourage you to learn more about this genetic test and consider its benefits.
For more information on the CDKN1C gene IMAGE Syndrome Genetic Test and other services provided by DNA Labs UAE, please visit our website at https://dnalabsuae.com/tests/cdkn1c-gene-image-syndrome-genetic-test/.
