Symptoms and Testing information for FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis Genetic Test

Symptoms and Testing information for FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis Genetic Test

The FOXL2 gene plays a critical role in the development of the eyelids and ovaries. Mutations in this gene can lead to a condition known as Blepharophimosis, Epicanthus Inversus, and Ptosis (BPES), a rare disorder that affects the eyes and, in some cases, fertility. Recognizing the symptoms of BPES is crucial for early diagnosis and management. At DNA Labs UAE, we offer a comprehensive genetic test for BPES, aiding in the accurate diagnosis of this condition. This test is priced at 4400 AED.

Symptoms of Blepharophimosis, Epicanthus Inversus, and Ptosis

Blepharophimosis, Epicanthus Inversus, and Ptosis (BPES) is characterized by a combination of distinctive eye features. Understanding these symptoms is the first step towards diagnosis and management.

  • Blepharophimosis: This refers to an abnormally narrow opening of the eyes. Individuals with BPES often have a reduced horizontal diameter of the eye opening, which can affect vision and appearance.
  • Epicanthus Inversus: This feature involves a fold of skin that stretches from the upper eyelid to the inner corner of the eye. This fold can cover the inner corner of the eye, making the eyes appear more widely set apart.
  • Ptosis: Ptosis is a drooping of the upper eyelid that can affect one or both eyes. This condition can range from mild to severe, potentially obstructing vision if the eyelid covers a significant portion of the pupil.

In addition to these primary symptoms, individuals with BPES might also experience infertility issues, particularly in Type I BPES, which affects both males and females. This is due to the involvement of the FOXL2 gene in ovarian function.

Importance of Genetic Testing for BPES

Genetic testing plays a pivotal role in the diagnosis and management of BPES. By identifying mutations in the FOXL2 gene, healthcare providers can confirm the diagnosis of BPES, differentiate between Type I and Type II, and offer appropriate management and treatment options. For families with a history of BPES, genetic testing can also provide valuable information for family planning.

The FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis Genetic Test at DNA Labs UAE

At DNA Labs UAE, we offer a specialized genetic test for BPES, targeting the FOXL2 gene. This test is designed to identify mutations associated with BPES, providing a definitive diagnosis of the condition. The cost of the test is 4400 AED, a worthwhile investment for individuals and families seeking clarity on this rare genetic disorder.

Our state-of-the-art laboratory is equipped with the latest technology and staffed by experienced geneticists, ensuring accurate and reliable results. The process is straightforward, requiring only a simple DNA sample obtained through a blood draw or cheek swab.

Understanding the genetic basis of BPES not only facilitates an accurate diagnosis but also opens the door to tailored management strategies that can significantly improve the quality of life for those affected by this condition.

For more information about the FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis Genetic Test, or to schedule a test, please visit our website at DNA Labs UAE.

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