Symptoms and Testing information for SALL4 Gene Duane Retraction syndrome Genetic Test

Symptoms and Testing information for SALL4 Gene Duane Retraction syndrome Genetic Test

Duane Retraction Syndrome (DRS) is a congenital eye movement disorder that restricts the eye’s ability to move outward toward the ear (abduction) and, in some cases, to move inward toward the nose (adduction). This condition, which can affect one or both eyes, is often diagnosed in early childhood. Among the genes associated with DRS, mutations in the SALL4 gene have garnered attention for their role in a subset of cases. Recognizing the symptoms associated with SALL4 gene mutations is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for the SALL4 gene Duane Retraction Syndrome, priced at 4400 AED. For more information, please visit DNA Labs UAE.

Symptoms of SALL4 Gene Duane Retraction Syndrome

The symptoms of Duane Retraction Syndrome linked to SALL4 gene mutations can vary from mild to severe and may affect the individual’s quality of life. It is important to recognize these symptoms early to seek appropriate medical advice and intervention.

  • Limitation of Eye Movement: The most prominent symptom of DRS is a restricted movement of the eye(s) horizontally. This limitation can affect one or both eyes, leading to difficulties in moving the eye outward or inward.

  • Eye Retraction: When attempting to move the eye inward, there may be noticeable retraction of the eyeball into the socket, which can cause the eye to appear smaller.

  • Abnormal Eyelid Movements: Individuals with DRS may exhibit abnormal narrowing of the eyelid opening when trying to move the eye inward or outward.

  • Strabismus: Misalignment of the eyes, commonly known as strabismus, can occur in individuals with DRS. This can lead to the affected eye turning inward (esotropia) or outward (exotropia).

  • Head Posturing: Due to the limited eye movement, individuals may adopt abnormal head positions, such as turning or tilting the head, to compensate for the restriction and improve their field of vision.

  • Visual Impairment: While not all individuals with DRS experience significant visual impairment, some may have difficulties with depth perception and binocular vision.

Understanding the Genetic Test for SALL4 Gene Duane Retraction Syndrome

Genetic testing for the SALL4 gene Duane Retraction Syndrome is a pivotal step in confirming the diagnosis and understanding the genetic basis of the condition. The test involves analyzing the DNA to identify mutations in the SALL4 gene that are associated with the syndrome. This genetic insight is invaluable for affected individuals and their families, as it aids in making informed decisions regarding treatment and management.

The genetic test offered by DNA Labs UAE for the SALL4 gene Duane Retraction Syndrome is priced at 4400 AED. The test is conducted by experienced geneticists using state-of-the-art technology to ensure accurate and reliable results. By opting for this test, individuals can gain a comprehensive understanding of their condition, paving the way for personalized treatment strategies.

For those interested in learning more about the genetic test for SALL4 gene Duane Retraction Syndrome or to schedule a test, please visit DNA Labs UAE. Our team of experts is dedicated to providing support and guidance throughout the testing process, ensuring a smooth and informative experience.

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