RPGRIP1L Gene Joubert syndrome type 7 Genetic Test
Test Name: RPGRIP1L Gene Joubert syndrome type 7 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 RPGRIP1L Gene Joubert syndrome type 7 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPGRIP1L Gene Joubert syndrome type 7.
Test Details
The RPGRIP1L gene is associated with Joubert syndrome type 7, which is a rare genetic disorder characterized by brain abnormalities that result in various physical and developmental disabilities. The RPGRIP1L gene provides instructions for producing a protein that is involved in the development and functioning of cilia, which are tiny, finger-like projections found on the surface of cells. Cilia play important roles in cell signaling and communication.
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 7, NGS testing can identify mutations or changes in the RPGRIP1L gene that may be responsible for the disorder.
The NGS genetic test for RPGRIP1L gene mutations can help confirm a diagnosis of Joubert syndrome type 7 in individuals who exhibit symptoms of the disorder. It can also be used for carrier testing in individuals with a family history of Joubert syndrome, as well as for prenatal testing in families at risk of having a child with the condition.
It is important to note that genetic testing should be done in consultation with a healthcare professional or genetic counselor who can provide guidance and interpretation of the results. They can also provide information about the implications of the test results and any available treatment options or management strategies.
| Test Name | RPGRIP1L Gene Joubert syndrome type 7 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 Joubert syndrome type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RPGRIP1L Gene Joubert syndrome type 7 |
| Test Details | The RPGRIP1L gene is associated with Joubert syndrome type 7, which is a rare genetic disorder characterized by brain abnormalities that result in various physical and developmental disabilities. The RPGRIP1L gene provides instructions for producing a protein that is involved in the development and functioning of cilia, which are tiny, finger-like projections found on the surface of cells. Cilia play important roles in cell signaling and communication. 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 7, NGS testing can identify mutations or changes in the RPGRIP1L gene that may be responsible for the disorder. The NGS genetic test for RPGRIP1L gene mutations can help confirm a diagnosis of Joubert syndrome type 7 in individuals who exhibit symptoms of the disorder. It can also be used for carrier testing in individuals with a family history of Joubert syndrome, as well as for prenatal testing in families at risk of having a child with the condition. It is important to note that genetic testing should be done in consultation with a healthcare professional or genetic counselor who can provide guidance and interpretation of the results. They can also provide information about the implications of the test results and any available treatment options or management strategies. |
