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Understanding CHIME Syndrome
CHIME syndrome is a rare genetic disorder caused by mutations in the PIGL gene. It is characterized by a constellation of symptoms that significantly impact the affected individuals. The name CHIME is an acronym that stands for Coloboma of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation (now more appropriately termed intellectual disability), and Ear anomalies and/or hearing loss. Due to its complexity and rarity, diagnosing CHIME syndrome requires a comprehensive understanding of its symptoms and the availability of advanced genetic testing.
Symptoms of CHIME Syndrome
The symptoms of CHIME syndrome are diverse and can vary significantly among affected individuals. However, some of the most common symptoms include:
- Coloboma of the Eye: This refers to a missing piece of tissue in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. It can affect one or both eyes and may lead to vision impairment.
- Heart Defects: Congenital heart defects are common in individuals with CHIME syndrome. These can range from minor anomalies that may not require treatment to severe malformations that necessitate surgical intervention.
- Ichthyosiform Dermatosis: This skin condition resembles ichthyosis, where the skin becomes dry, thick, and scaly. It is a hallmark feature of CHIME syndrome and can vary in severity.
- Intellectual Disability: Many individuals with CHIME syndrome experience developmental delays and varying degrees of intellectual disability, impacting their learning and daily functioning.
- Ear Anomalies and Hearing Loss: Ear anomalies, including structural abnormalities and hearing loss, are prevalent in CHIME syndrome. These can affect speech development and communication.
Other symptoms may include growth delays, seizures, and distinctive facial features such as a broad forehead, flat nasal bridge, and wide-set eyes. Due to the wide range of symptoms and their variability, a genetic test is crucial for an accurate diagnosis.
PIGL Gene CHIME Syndrome Genetic Test at DNA Labs UAE
At DNA Labs UAE, we offer a specialized genetic test for CHIME syndrome, targeting mutations in the PIGL gene. This test is essential for confirming the diagnosis, especially in cases where the clinical presentation is unclear or when multiple disorders are being considered. Early and accurate diagnosis allows for better management of the condition, tailored interventions, and informed genetic counseling for families.
The cost of the PIGL gene CHIME syndrome genetic test at DNA Labs UAE is 4400 AED. Our state-of-the-art laboratory is equipped with advanced technologies to ensure high accuracy and reliability of the test results. Our team of experts is committed to providing comprehensive support throughout the testing process, from pre-test counseling to post-test follow-up.
Why Choose DNA Labs UAE?
Choosing DNA Labs UAE for your genetic testing needs ensures access to leading-edge technology and a team of highly skilled professionals. We are dedicated to delivering precise and timely results, enabling effective management and support for affected individuals and their families. Our commitment to excellence and patient care makes us a trusted partner in your genetic health journey.
For more information or to schedule a test, please visit our website at DNA Labs UAE.
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