AHI1 Gene Joubert syndrome type 3 Genetic Test
Components: AHI1 Gene Joubert syndrome type 3 Genetic Test
Price: 4400.0 AED
Sample Condition: Blood
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 AHI1 Gene Joubert syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AHI1 Gene Joubert syndrome type 3.
Test Details
The AHI1 gene is associated with Joubert syndrome type 3, a rare genetic disorder that affects the development of the brainstem and cerebellum. Joubert syndrome is characterized by a specific brain malformation called the “molar tooth sign” on brain imaging, as well as a range of symptoms including intellectual disability, breathing abnormalities, abnormal eye movements, and kidney problems.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify any genetic variations or mutations that may be associated with a specific condition or disease. In the case of Joubert syndrome type 3, NGS genetic testing can be used to analyze the AHI1 gene and identify any mutations or variations that may be present.
This type of genetic testing can help confirm a diagnosis of Joubert syndrome type 3 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, 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 for Joubert syndrome type 3 is typically performed by healthcare professionals who specialize in medical genetics. The results of the test should be interpreted and discussed with a healthcare provider or genetic counselor, who can provide guidance and support based on the individual’s specific situation.
| Test Name | AHI1 Gene Joubert syndrome type 3 Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood |
| 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 AHI1 Gene Joubert syndrome type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AHI1 Gene Joubert syndrome type 3 |
| Test Details |
The AHI1 gene is associated with Joubert syndrome type 3, a rare genetic disorder that affects the development of the brainstem and cerebellum. Joubert syndrome is characterized by a specific brain malformation called the “molar tooth sign” on brain imaging, as well as a range of symptoms including intellectual disability, breathing abnormalities, abnormal eye movements, and kidney problems. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify any genetic variations or mutations that may be associated with a specific condition or disease. In the case of Joubert syndrome type 3, NGS genetic testing can be used to analyze the AHI1 gene and identify any mutations or variations that may be present. This type of genetic testing can help confirm a diagnosis of Joubert syndrome type 3 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, 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 for Joubert syndrome type 3 is typically performed by healthcare professionals who specialize in medical genetics. The results of the test should be interpreted and discussed with a healthcare provider or genetic counselor, who can provide guidance and support based on the individual’s specific situation. |
