CEP41 Gene Joubert Syndrome Type 15 Genetic Test
Test Name: CEP41 Gene Joubert Syndrome Type 15 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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 CEP41 Gene Joubert Syndrome Type 15 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP41 Gene Joubert Syndrome Type 15.
Test Details
The CEP41 gene is associated with Joubert syndrome type 15, a rare genetic disorder characterized by developmental delay, intellectual disability, abnormal breathing patterns, and a specific brain malformation known as the “molar tooth sign.”
NGS (Next-Generation Sequencing) Genetic Testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of Joubert syndrome type 15, NGS genetic testing can be used to identify mutations or variations in the CEP41 gene that may be responsible for the disorder.
This type of genetic testing can help in confirming a clinical diagnosis, providing information on the specific genetic cause of the disorder, and assessing the risk of passing the condition on to future generations. It can also be used for carrier testing in individuals with a family history of Joubert syndrome type 15.
It is important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetics, as the results can have significant implications for individuals and their families. Genetic counseling is often recommended before and after genetic testing to discuss the benefits, limitations, and potential implications of the test results.
| Test Name | CEP41 Gene Joubert syndrome type 15 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 CEP41 Gene Joubert syndrome type 15 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CEP41 Gene Joubert syndrome type 15 |
| Test Details |
The CEP41 gene is associated with Joubert syndrome type 15, a rare genetic disorder characterized by developmental delay, intellectual disability, abnormal breathing patterns, and a specific brain malformation known as the “molar tooth sign.” NGS (Next-Generation Sequencing) Genetic Testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of Joubert syndrome type 15, NGS genetic testing can be used to identify mutations or variations in the CEP41 gene that may be responsible for the disorder. This type of genetic testing can help in confirming a clinical diagnosis, providing information on the specific genetic cause of the disorder, and assessing the risk of passing the condition on to future generations. It can also be used for carrier testing in individuals with a family history of Joubert syndrome type 15. It is important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetics, as the results can have significant implications for individuals and their families. Genetic counseling is often recommended before and after genetic testing to discuss the benefits, limitations, and potential implications of the test results. |
