Trichohepatoenteric syndrome type 1 is a rare genetic disorder that affects various parts of the body, including the hair, liver, and intestines. It is caused by mutations in the TTC37 gene. This condition is characterized by a range of symptoms that can vary significantly in severity among affected individuals. Understanding these symptoms is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a genetic test for the TTC37 gene to help identify this syndrome, providing crucial information for affected families.
Symptoms of Trichohepatoenteric Syndrome Type 1
Trichohepatoenteric syndrome type 1 manifests through a variety of symptoms, which primarily affect the hair, liver, and gastrointestinal system. However, other systems in the body can also be involved. The most common symptoms include:
- Woolly and brittle hair: One of the hallmark symptoms of this condition is the abnormal texture and appearance of the hair, which can be easily recognized by specialists.
- Diarrhea: Persistent diarrhea, often starting in infancy, is a major symptom. It is typically severe and can lead to failure to thrive and malnutrition.
- Liver dysfunction: Abnormal liver function tests may indicate liver involvement, which can range from mild to severe.
- Facial dysmorphism: Some individuals may present with distinct facial features, although these can vary widely.
- Immunodeficiency: Affected individuals may have a compromised immune system, leading to an increased susceptibility to infections.
- Growth retardation: Due to the severe diarrhea and malnutrition, children with this syndrome often experience growth delays.
Other symptoms may include congenital heart defects, skeletal abnormalities, and developmental delays. The severity and combination of symptoms can vary greatly among individuals, making the syndrome highly variable in its presentation.
TTC37 Gene Trichohepatoenteric Syndrome Type 1 Genetic Test
Understanding the genetic basis of trichohepatoenteric syndrome type 1 is crucial for accurate diagnosis and management. The TTC37 gene test offered by DNA Labs UAE is a comprehensive genetic test that screens for mutations in the TTC37 gene, which are responsible for the condition. This test is an invaluable tool for families seeking answers about this rare disorder.
The cost of the TTC37 gene test is 4400 AED. This investment provides not only a definitive diagnosis but also guides the management and treatment of affected individuals. Early diagnosis can lead to timely interventions that significantly improve the quality of life for those with the syndrome.
Why Choose DNA Labs UAE for Your Genetic Testing Needs?
DNA Labs UAE is a leading provider of genetic testing services in the United Arab Emirates. Our state-of-the-art laboratory is equipped with the latest technology to ensure accurate and reliable results. Our team of experts is dedicated to providing the highest level of care and support throughout the testing process. By choosing DNA Labs UAE for your genetic testing needs, you can be assured of:
- Comprehensive and accurate genetic testing services.
- Support and guidance from a team of genetic counseling experts.
- Confidential handling of all test results and personal information.
- Competitive pricing and transparent billing.
For more information about the TTC37 gene test and to schedule your test, please visit our website at DNA Labs UAE.
Understanding the symptoms and genetic basis of trichohepatoenteric syndrome type 1 is the first step towards effective management and care. With the comprehensive genetic testing services provided by DNA Labs UAE, families affected by this rare condition can find the answers and support they need.
