Symptoms and Testing information for KIF21A Gene Fibrosis of extraocular muscles congenital type 1 Genetic Test

Symptoms and Testing information for KIF21A Gene Fibrosis of extraocular muscles congenital type 1 Genetic Test

Understanding KIF21A Gene Fibrosis of Extraocular Muscles Congenital Type 1

Fibrosis of the extraocular muscles congenital type 1 (CFEOM1) is a rare genetic disorder that primarily affects the muscles that control eye movement. It is caused by mutations in the KIF21A gene. Individuals with this condition often present with a distinctive eye movement disorder from birth or early infancy. Recognizing the symptoms early can lead to timely intervention and management of the condition. DNA Labs UAE offers a comprehensive genetic test for this condition, providing crucial information for affected families.

Symptoms of KIF21A Gene Fibrosis of Extraocular Muscles Congenital Type 1

The symptoms of CFEOM1 can vary in severity among affected individuals but typically include:

  • Strabismus: This is a condition where the eyes do not properly align with each other when looking at an object. One or both eyes may turn in, out, up, or down.
  • Limited Eye Movement: Individuals with CFEOM1 often have difficulty moving their eyes in certain directions. This is due to the fibrosis or stiffening of the eye muscles.
  • Ptosis: This refers to drooping of the upper eyelid. In severe cases, the eyelid can cover the pupil entirely, affecting vision.
  • Abnormal Head Posture: To compensate for limited eye movement and align their vision, individuals with CFEOM1 may adopt an abnormal head position, such as tilting or turning the head in specific directions.

These symptoms are typically present at birth or develop within the first few months of life. It’s important for parents and caregivers to be aware of these signs as early diagnosis and management can significantly improve the quality of life for those affected.

Genetic Test for KIF21A Gene Fibrosis of Extraocular Muscles Congenital Type 1

DNA Labs UAE is at the forefront of genetic testing, offering a specific test for KIF21A gene fibrosis of extraocular muscles congenital type 1. This test is crucial for confirming the diagnosis, understanding the condition’s severity, and making informed decisions about treatment and management. The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed for mutations in the KIF21A gene.

The cost of the genetic test is 4400 AED. While the cost may seem significant, the value it provides in terms of accurate diagnosis and the guidance it offers for treatment strategies cannot be overstated. Early diagnosis through genetic testing can lead to early intervention, which can significantly improve outcomes for individuals with this condition.

Conclusion

CFEOM1 is a challenging condition, but understanding its symptoms and the availability of genetic testing can empower families to seek the best possible care. DNA Labs UAE’s genetic test for the KIF21A gene offers hope and support for those affected by providing crucial information for managing this rare disorder. For more information and to schedule a test, visit DNA Labs UAE.

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