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Symptoms of ANTXR2 Gene Hyaline Fibromatosis Syndrome Genetic Test
Hyaline Fibromatosis Syndrome (HFS) is a rare genetic disorder that can have a significant impact on an individual’s health and quality of life. Caused by mutations in the ANTXR2 gene, this condition manifests through a variety of symptoms that can range from mild to severe. Understanding these symptoms is crucial for early diagnosis and treatment. DNA Labs UAE offers a comprehensive genetic test for HFS, providing a crucial resource for affected families.
The ANTXR2 gene plays a pivotal role in regulating the amount of hyaline, a substance that accumulates in the body’s tissues in HFS. Mutations in this gene disrupt this balance, leading to the various symptoms associated with the syndrome. These symptoms can be broadly categorized into skin manifestations, joint abnormalities, and systemic features.
Skin Manifestations
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Thickened skin that appears waxy and can be found on the hands, feet, and face.
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Papules and nodules, particularly around the neck, ears, and nose.
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Gingival hypertrophy, leading to difficulties in eating and speaking.
Joint Abnormalities
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Joint contractures, which can limit movement and lead to disability.
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Pain in the joints.
Systemic Features
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Failure to thrive in infants.
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Recurrent infections, due to immune system involvement.
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Delayed physical development.
Recognizing these symptoms early on is crucial for managing HFS. The genetic test offered by DNA Labs UAE for the ANTXR2 gene hyaline fibromatosis syndrome is a vital tool in this process. By identifying mutations in the ANTXR2 gene, this test can confirm a diagnosis of HFS, enabling timely and appropriate interventions.
The cost of the ANTXR2 Gene Hyaline Fibromatosis Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This investment covers a comprehensive analysis of the ANTXR2 gene, offering peace of mind and a clear path forward for affected individuals and their families.
For more information about the ANTXR2 Gene Hyaline Fibromatosis Syndrome Genetic Test and to schedule your appointment, please visit DNA Labs UAE.
Early detection and diagnosis are key to managing Hyaline Fibromatosis Syndrome. With the support of DNA Labs UAE, families can gain the insights they need to navigate this challenging condition. The comprehensive genetic testing offered not only aids in confirming a diagnosis but also provides a foundation for personalized treatment plans, ensuring the best possible outcomes for those affected.
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