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. |
