CC2D2A Gene Joubert Syndrome Type 9 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
Clinical History of Patient who is going for CC2D2A Gene Joubert Syndrome Type 9 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CC2D2A Gene Joubert Syndrome Type 9.
Test Details
The CC2D2A gene is associated with Joubert Syndrome Type 9, a rare genetic disorder characterized by neurological abnormalities. Joubert syndrome is a ciliopathy, affecting the function of cilia, which are small hair-like structures found on the surface of cells.
NGS (Next-Generation Sequencing) Genetic Testing is a technique used to analyze multiple genes simultaneously and identify variations or mutations associated with a particular condition. In the case of Joubert Syndrome Type 9, NGS genetic testing can identify mutations in the CC2D2A gene.
By analyzing the CC2D2A gene, NGS testing can help confirm a diagnosis of Joubert Syndrome Type 9 in individuals with symptoms. It can also be used for carrier testing in individuals with a family history of Joubert Syndrome, assessing the risk of passing on the condition to their children.
NGS testing involves obtaining a sample of DNA through a blood sample or cheek swab. The DNA is then sequenced using advanced technology to detect variations or mutations in the CC2D2A gene.
The results of the test provide valuable information for diagnosis, genetic counseling, and potential treatment options for individuals with Joubert Syndrome Type 9.
Test Name | CC2D2A Gene Joubert syndrome type 9 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 CC2D2A Gene Joubert syndrome type 9 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CC2D2A Gene Joubert syndrome type 9 |
Test Details |
The CC2D2A gene is associated with Joubert syndrome type 9, which is a rare genetic disorder characterized by neurological abnormalities. Joubert syndrome is a ciliopathy, meaning it affects the function of cilia, which are small hair-like structures found on the surface of cells. NGS (Next-Generation Sequencing) Genetic Testing is a technique used to analyze multiple genes simultaneously and identify variations or mutations that may be associated with a particular condition. In the case of Joubert syndrome type 9, NGS genetic testing can be used to identify mutations in the CC2D2A gene. By analyzing the CC2D2A gene, NGS testing can help confirm a diagnosis of Joubert syndrome type 9 in individuals who exhibit symptoms of the condition. It can also be used for carrier testing in individuals with a family history of Joubert syndrome, allowing them to assess the risk of passing on the condition to their children. NGS testing typically involves obtaining a sample of DNA, either through a blood sample or a cheek swab. The DNA is then sequenced using advanced technology, which allows for the detection of variations or mutations in the CC2D2A gene. The results of the test can provide valuable information for diagnosis, genetic counseling, and potential treatment options for individuals with Joubert syndrome type 9. |