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RPGRIP1L Gene Joubert Syndrome Type 7 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The RPGRIP1L gene plays a crucial role in the development and function of primary cilia, which are essential for cell signaling pathways. Mutations in the RPGRIP1L gene are associated with Joubert Syndrome Type 7, a rare genetic disorder characterized by the malformation of the cerebellum and brainstem, leading to a range of developmental and neurological symptoms including ataxia, hypotonia, and intellectual disability.

To diagnose this specific type of Joubert Syndrome, genetic testing targeting the RPGRIP1L gene is essential. DNA Labs UAE offers a comprehensive genetic test for Joubert Syndrome Type 7, focusing on identifying mutations within the RPGRIP1L gene. The test is crucial for accurate diagnosis, guiding treatment plans, and providing vital information for family planning.

The cost of the RPGRIP1L gene test at DNA Labs UAE is 4400 AED. This investment covers the sophisticated process of analyzing the gene for mutations known to cause Joubert Syndrome Type 7. By opting for this test, patients and their families can gain a deeper understanding of the condition, enabling informed decisions regarding management and care.

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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.