Symptoms and Testing information for C10ORF11 Gene Albinism Oculocutaneous Type 5 Genetic Test

Symptoms and Testing information for C10ORF11 Gene Albinism Oculocutaneous Type 5 Genetic Test

Albinism is a group of genetic disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair, and eyes. Among its various types, Oculocutaneous Albinism Type 5 (OCA5), associated with mutations in the C10ORF11 gene, is relatively less understood due to its recent discovery. Recognizing the symptoms associated with this genetic condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for OCA5, providing invaluable insights for affected individuals and their families.

Symptoms of C10ORF11 Gene Albinism Oculocutaneous Type 5

OCA5 manifests through a spectrum of symptoms, primarily affecting the skin, hair, and eyes. The severity and combination of these symptoms can vary widely among individuals.

  • Hypopigmentation of the Skin: Individuals with OCA5 often have significantly lighter skin compared to unaffected family members. This hypopigmentation increases the susceptibility to sunburn and skin cancers due to reduced melanin protection against ultraviolet (UV) radiation.
  • Hair Color Variation: The hair may range from white to light brown, often becoming darker with age. In some cases, hair color can also be similar to unaffected family members, making diagnosis based on hair color alone challenging.
  • Visual Impairments: Vision problems are a hallmark of all types of albinism, including OCA5. Affected individuals may experience reduced visual acuity, nystagmus (involuntary eye movement), strabismus (crossed eyes), and sensitivity to bright light.
  • Skin and Eye Changes: Besides the reduced pigmentation, there may be other changes in the skin and eyes. Freckles, nevi (moles), or lentigines (sun spots) can appear, especially in sun-exposed areas. The iris may also have reduced pigmentation, leading to translucency and increased light sensitivity.

Genetic Test for C10ORF11 Gene Albinism Oculocutaneous Type 5

Understanding the genetic basis of OCA5 is crucial for accurate diagnosis and management. DNA Labs UAE offers a specialized genetic test that identifies mutations in the C10ORF11 gene, confirming the diagnosis of Oculocutaneous Albinism Type 5. This test is particularly important for families with a history of albinism, individuals showing symptoms of the condition, and couples undergoing genetic counseling.

The genetic test involves a simple and non-invasive procedure, typically requiring only a saliva or blood sample. The sample is then analyzed using advanced genetic sequencing techniques to detect any mutations in the C10ORF11 gene. The process is highly accurate and provides a definitive diagnosis of OCA5.

The cost of the genetic test for C10ORF11 Gene Albinism Oculocutaneous Type 5 at DNA Labs UAE is 4400 AED. While the cost may seem significant, the insights gained from this test are invaluable for affected individuals and their families. It aids in early diagnosis, which is essential for managing the condition and improving the quality of life for those affected.

Conclusion

Oculocutaneous Albinism Type 5, caused by mutations in the C10ORF11 gene, presents unique challenges due to its varied symptoms and the recent discovery of the condition. Early recognition of symptoms and genetic testing are vital for managing the condition effectively. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the test for OCA5. For more information or to schedule a test, please visit https://dnalabsuae.com/tests/c10orf11-gene-albinism-oculocutaneous-type-5-genetic-test/.

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