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RPGRIP1L Gene COACH Syndrome Genetic Test

4,400 د.إ

-21%

The RPGRIP1L gene plays a crucial role in the development and function of primary cilia, which are essential for cell signaling pathways. Mutations in the RPGRIP1L gene are associated with COACH Syndrome, a rare genetic disorder characterized by cerebellar vermis hypoplasia, oligophrenia (intellectual disability), ataxia, colobomas (defects in the iris or retina of the eye), and hepatic fibrosis. COACH Syndrome is part of a group of diseases known as ciliopathies, which are caused by dysfunction of the primary cilium.

To diagnose COACH Syndrome and identify the specific mutations in the RPGRIP1L gene, genetic testing is available at DNA Labs UAE. The test involves analyzing the patient’s DNA to look for mutations in the RPGRIP1L gene that are known to cause the syndrome. This genetic test is critical for confirming the diagnosis, understanding the disease’s progression, and guiding treatment and management decisions for affected individuals and their families.

The cost of the RPGRIP1L gene COACH Syndrome genetic test at DNA Labs UAE is 4400 AED. This comprehensive testing provides valuable information for the diagnosis and management of COACH Syndrome, facilitating personalized care plans and potentially improving outcomes for those affected by this rare condition.

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RPGRIP1L Gene COACH syndrome Genetic Test

Welcome to DNA Labs UAE, your trusted genetic testing laboratory. Today, we will be discussing the RPGRIP1L Gene COACH syndrome Genetic Test, its components, cost, symptoms, diagnosis, and more.

Test Name: RPGRIP1L Gene COACH 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:

Neurological Disorders

Doctor:

Neurologist

Test Department:

Genetics

Pre Test Information:

Before undergoing the RPGRIP1L Gene COACH syndrome NGS Genetic DNA Test, it is essential 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 by RPGRIP1L Gene COACH syndrome.

Test Details:

The RPGRIP1L gene plays a crucial role in the development and function of cilia, which are tiny hair-like structures on cell surfaces. Mutations in this gene have been linked to COACH syndrome, a rare genetic disorder characterized by cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Our NGS (next-generation sequencing) genetic testing utilizes advanced technology to analyze multiple genes simultaneously. This comprehensive approach allows us to identify mutations in the RPGRIP1L gene and other genes associated with COACH syndrome. By analyzing a patient’s genetic makeup, NGS testing helps determine the underlying cause of a genetic disorder.

At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Our RPGRIP1L Gene COACH syndrome Genetic Test can provide valuable insights into the diagnosis and management of this rare genetic disorder.

Test Name RPGRIP1L Gene COACH 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 RPGRIP1L Gene COACH syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RPGRIP1L Gene COACH syndrome
Test Details

The RPGRIP1L gene is a gene that provides instructions for making a protein that is important for the development and function of cilia, which are tiny hair-like structures that protrude from the surface of cells. Mutations in this gene have been associated with a rare genetic disorder called COACH syndrome, which is characterized by cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis.

NGS (next-generation sequencing) genetic testing is a type of genetic testing that uses advanced technology to analyze multiple genes at once. This type of testing can be used to identify mutations in the RPGRIP1L gene and other genes that may be associated with COACH syndrome. NGS testing can provide a more comprehensive analysis of a patient’s genetic makeup and can help to identify the underlying cause of a genetic disorder.