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TMEM216 Gene Joubert Syndrome Type 2 Genetic Test

4,400 د.إ

-21%

The TMEM216 Gene Joubert Syndrome Type 2 Genetic Test is a specialized diagnostic procedure designed to detect mutations in the TMEM216 gene, which are linked to Joubert Syndrome Type 2. Joubert Syndrome is a rare genetic disorder characterized by the underdevelopment of the cerebellar vermis—an area of the brain that controls balance and coordination—and a malformation that gives the appearance of a molar tooth sign on MRI scans. Symptoms of the disorder may include hypotonia, ataxia, developmental delays, irregular breathing patterns, and sometimes retinal dystrophy and kidney abnormalities.

The test is offered at DNA Labs UAE, a state-of-the-art facility known for its comprehensive genetic testing services. By analyzing a patient’s DNA, the test aims to confirm a diagnosis of Joubert Syndrome Type 2, enabling healthcare providers to offer more personalized treatment plans and genetic counseling for affected families. The cost of the TMEM216 Gene Joubert Syndrome Type 2 Genetic Test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify mutations in the TMEM216 gene. Through this test, families gain valuable insights into the genetic basis of the condition, paving the way for better management and understanding of the syndrome.

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TMEM216 Gene Joubert syndrome type 2 Genetic Test

Components: TMEM216 Gene Joubert syndrome type 2 Genetic Test

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 TMEM216 Gene Joubert syndrome type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM216 Gene Joubert syndrome type 2

Test Details:

The TMEM216 gene is associated with Joubert syndrome type 2, a rare genetic disorder that affects the development of the brain. Joubert syndrome is characterized by a specific brain malformation called the “molar tooth sign,” which can be observed on brain imaging scans.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that allows for the analysis of multiple genes simultaneously. In the case of Joubert syndrome type 2, NGS genetic testing can be used to identify mutations or variations in the TMEM216 gene.

By analyzing the TMEM216 gene through NGS, geneticists can determine if there are any genetic changes or mutations that may be causing or contributing to the development of Joubert syndrome type 2 in an individual. This information can be helpful for diagnosis, genetic counseling, and potentially guiding treatment options.

It is important to note that genetic testing for Joubert syndrome type 2 should be conducted and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide accurate and personalized information based on the individual’s specific circumstances.

Test Name TMEM216 Gene Joubert syndrome type 2 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 TMEM216 Gene Joubert syndrome type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM216 Gene Joubert syndrome type 2
Test Details

The TMEM216 gene is associated with Joubert syndrome type 2, a rare genetic disorder that affects the development of the brain. Joubert syndrome is characterized by a specific brain malformation called the “molar tooth sign,” which can be observed on brain imaging scans.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that allows for the analysis of multiple genes simultaneously. In the case of Joubert syndrome type 2, NGS genetic testing can be used to identify mutations or variations in the TMEM216 gene.

By analyzing the TMEM216 gene through NGS, geneticists can determine if there are any genetic changes or mutations that may be causing or contributing to the development of Joubert syndrome type 2 in an individual. This information can be helpful for diagnosis, genetic counseling, and potentially guiding treatment options.

It is important to note that genetic testing for Joubert syndrome type 2 should be conducted and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide accurate and personalized information based on the individual’s specific circumstances.