Sale!

CEP290 Gene Joubert Syndrome Type 5 Genetic Test

4,400 د.إ

-21%

The CEP290 gene plays a crucial role in the development and function of various cell types, including those necessary for proper brain, retinal, and kidney function. Mutations in the CEP290 gene are linked to Joubert Syndrome Type 5, a rare genetic disorder characterized by the underdevelopment of the cerebellum and brain stem, leading to a range of symptoms such as coordination and balance problems, abnormal eye movements, and intellectual disability.

To diagnose this specific subtype of Joubert Syndrome, genetic testing is essential. DNA Labs UAE offers a specialized genetic test targeting the CEP290 gene to identify mutations associated with Joubert Syndrome Type 5. This test is crucial for accurate diagnosis, allowing for tailored management and treatment plans for affected individuals.

The cost of the CEP290 gene test for Joubert Syndrome Type 5 at DNA Labs UAE is 4400 AED. This investment covers the sophisticated techniques used to analyze the gene for mutations and the professional expertise required to interpret the results accurately. The outcome of this test not only aids in the diagnosis but also helps in understanding the risk of passing the condition to future generations, making it a valuable tool for affected families.

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
Guaranteed Safe Checkout

CEP290 Gene Joubert Syndrome Type 5 Genetic Test

At DNA Labs UAE, we offer the CEP290 Gene Joubert Syndrome Type 5 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: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics

Pre Test Information:

Prior to the CEP290 Gene Joubert Syndrome Type 5 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 by CEP290 Gene Joubert Syndrome Type 5.

Test Details:

The CEP290 gene is associated with Joubert Syndrome Type 5, a rare genetic disorder characterized by a specific brain abnormality known as the “molar tooth sign.” Individuals with this syndrome may also experience developmental delay, intellectual disability, breathing problems, and kidney abnormalities.

Our NGS (Next-Generation Sequencing) genetic testing utilizes advanced sequencing technology to analyze multiple genes simultaneously. For Joubert Syndrome Type 5, the CEP290 gene will be sequenced to identify any potential disease-causing mutations or variants. This test can help confirm a diagnosis for individuals exhibiting symptoms consistent with the condition. It can also be used for carrier testing in individuals with a family history of the disorder or for prenatal testing in families at risk of having a child with Joubert Syndrome Type 5.

It is important to consult with a healthcare professional or genetic counselor before undergoing genetic testing. They can provide guidance on the appropriateness of testing, interpretation of results, and implications for individuals and their families.

Test Name CEP290 Gene Joubert syndrome type 5 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 CEP290 Gene Joubert syndrome type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Joubert syndrome type 5
Test Details

The CEP290 gene is associated with Joubert syndrome type 5, which is a rare genetic disorder characterized by a specific brain abnormality called the “molar tooth sign” and various other symptoms including developmental delay, intellectual disability, breathing problems, and kidney abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of Joubert syndrome type 5, an NGS genetic test would involve sequencing the CEP290 gene to identify any potential disease-causing mutations or variants.

This type of genetic test can help confirm a diagnosis of Joubert syndrome type 5 in individuals with symptoms consistent with the condition. It can also be used for carrier testing in individuals with a family history of the disorder or for prenatal testing in families at risk of having a child with Joubert syndrome type 5.

It is important to note that genetic testing should be done in consultation with a healthcare professional or genetic counselor, who can provide guidance on the appropriateness of testing, interpretation of results, and implications for individuals and their families.