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ITPR1 Gene Gillespie syndrome Genetic Test

4,400 د.إ

-21%

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.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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ITPR1 Gene Gillespie Syndrome Genetic Test

At DNA Labs UAE, we offer the ITPR1 Gene Gillespie Syndrome Genetic Test at a cost of AED 4400.0.

Test Components

  • Price: 4400.0 AED
  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test Type: Ophthalmology Disorders
  • Doctor: Ophthalmologist
  • Test Department: Genetics

Pre Test Information

Prior to undergoing the ITPR1 Gene Gillespie Syndrome Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with ITPR1 Gene Gillespie Syndrome.

Test Details

The ITPR1 gene is associated with Gillespie syndrome, a rare genetic disorder characterized by ataxia, developmental delay, and hypogonadotropic hypogonadism. Our NGS (Next Generation Sequencing) genetic testing utilizes advanced technology to analyze the DNA sequence of the ITPR1 gene, allowing us to detect any variations or mutations that may be responsible for Gillespie syndrome. By accurately diagnosing the disorder, we can develop a personalized treatment plan for affected individuals.

Test Name ITPR1 Gene Gillespie syndrome Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Ophthalmology Disorders
Doctor Ophthalmologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for ITPR1 Gene Gillespie syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ITPR1 Gene Gillespie syndrome NGS Genetic DNA Test gene ITPR1
Test Details

The ITPR1 gene is associated with Gillespie syndrome, which is a rare genetic disorder characterized by the combination of ataxia, developmental delay, and hypogonadotropic hypogonadism. NGS (Next Generation Sequencing) genetic testing is a powerful tool for identifying mutations in the ITPR1 gene that can cause Gillespie syndrome. This test analyzes the DNA sequence of the ITPR1 gene to detect any variations or mutations that may be responsible for the disorder. The results of this test can help doctors make an accurate diagnosis and develop a personalized treatment plan for affected individuals.