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ITPR1 Gene Gillespie Syndrome Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The “ITPR1 Gene Gillespie Syndrome Genetic Test” is a specialized diagnostic procedure conducted to detect mutations in the ITPR1 gene, which are linked to Gillespie Syndrome, a rare genetic disorder. This syndrome is characterized by partial aniridia (a condition where the iris is partially absent), ataxia (lack of muscle coordination), and intellectual disability. The test is crucial for confirming the diagnosis, enabling early intervention, and providing targeted management to affected individuals.

Conducted at DNA Labs UAE, a leading facility in genetic testing, the test offers a comprehensive analysis of the ITPR1 gene to identify any genetic abnormalities that may be responsible for the syndrome. The cost of the test is 4400 AED, reflecting the advanced technology and expertise required to accurately diagnose this rare condition. Through this test, families and healthcare providers can gain valuable insights into the genetic basis of Gillespie Syndrome, facilitating informed decisions about care and support for those affected.

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  • 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. This test is designed to identify mutations in the ITPR1 gene that cause Gillespie syndrome, a rare genetic disorder characterized by developmental delay, ataxia, and intellectual disability.

Test Components

  • Price: 4400.0 AED

Sample Condition

The test can be conducted using blood, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

The test results will be delivered within 3 to 4 weeks.

Method

The ITPR1 Gene Gillespie Syndrome Genetic Test utilizes NGS (next-generation sequencing) technology.

Test Type

This test is specifically designed for the diagnosis of neurological disorders.

Doctor

The test is conducted under the supervision of a neurologist.

Test Department

The ITPR1 Gene Gillespie Syndrome Genetic Test is conducted in our Genetics department.

Pre Test Information

Before undergoing the ITPR1 Gene Gillespie Syndrome Genetic Test, the patient is required to provide their clinical history. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by ITPR1 Gene Gillespie Syndrome.

Test Details

Gillespie syndrome is a rare genetic disorder characterized by developmental delay, ataxia, and intellectual disability. The ITPR1 gene is associated with this syndrome. Our NGS genetic testing method can identify mutations in the ITPR1 gene, providing a definitive diagnosis for affected individuals. This information is crucial for the management and treatment of Gillespie syndrome.

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 o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
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
Test Details

The ITPR1 gene is associated with Gillespie syndrome, a rare genetic disorder characterized by developmental delay, ataxia, and intellectual disability. NGS (next-generation sequencing) genetic testing can be used to identify mutations in the ITPR1 gene that cause Gillespie syndrome. This type of genetic testing can provide a definitive diagnosis and help with management and treatment options for affected individuals.