The ITPR1 gene Gillespie syndrome genetic test is a specialized diagnostic assessment offered at DNA Labs UAE, designed to detect mutations in the ITPR1 gene that are associated with Gillespie syndrome. Gillespie syndrome is a rare genetic disorder characterized by partial aniridia (absence of the iris), ataxia, and intellectual disability. The condition is inherited in an autosomal dominant manner, meaning a mutation in just one of the two copies of the gene is sufficient to cause the disorder.

This test is critical for individuals who exhibit symptoms of Gillespie syndrome or have a family history of the condition, as it provides definitive genetic evidence of the ITPR1 gene mutation. Early and accurate diagnosis through this genetic test can facilitate appropriate management and interventions for affected individuals.

The cost of the ITPR1 gene Gillespie syndrome genetic test at DNA Labs UAE is set at 4400 AED. This price reflects the comprehensive analysis involved in identifying the genetic mutation, including the collection of a DNA sample, typically through a blood draw or cheek swab, and the subsequent laboratory analysis. Once the test is completed, a detailed report is provided, outlining the findings and offering guidance for further steps.

Given the specialized nature of this test and its importance in the diagnosis and management of Gillespie syndrome, it is a valuable tool for affected families. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experienced professionals to ensure accurate and reliable results.