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AHI1 Gene Joubert Syndrome Type 3 Genetic Test

4,400 د.إ

-21%

The AHI1 Gene Joubert Syndrome Type 3 Genetic Test is a specialized diagnostic procedure designed to identify mutations in the AHI1 gene, which are linked to Joubert Syndrome Type 3, a rare genetic disorder. This condition is characterized by the underdevelopment of the cerebellum and brain stem, leading to a range of symptoms such as coordination and balance problems, irregular breathing patterns, and cognitive impairments. The test is crucial for early diagnosis and management of the syndrome, providing essential information for healthcare providers to tailor appropriate treatment and intervention strategies for affected individuals.

Conducted at DNA Labs UAE, a leading facility in genetic testing, the test involves analyzing the patient’s DNA to search for specific mutations in the AHI1 gene that are known to cause Joubert Syndrome Type 3. The process is meticulous, ensuring high accuracy and reliability in the results.

The cost of the AHI1 Gene Joubert Syndrome Type 3 Genetic Test is set at 4400 AED. This price reflects the sophisticated technology and expertise required to perform the test, including the analysis and interpretation of the results. For families and individuals facing the possibility of Joubert Syndrome Type 3, this test offers a critical pathway to understanding their genetic health, enabling informed decisions about care and management of the condition.

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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.