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TCTN2 Gene Joubert Syndrome Type 24 Genetic Test

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

-21%

The TCTN2 gene Joubert Syndrome Type 24 genetic test is a specialized diagnostic examination designed to detect mutations in the TCTN2 gene, which are associated with Joubert Syndrome Type 24. 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 in the brain structure known as the “molar tooth sign.” This condition may lead to a variety of symptoms, including developmental delays, hypotonia, irregular breathing patterns, and abnormalities in eye and tongue movements.

The test, which is available at DNA Labs UAE, plays a crucial role in the early diagnosis and management of Joubert Syndrome Type 24. By identifying the specific genetic mutations present in the TCTN2 gene, healthcare providers can offer personalized treatment plans, conduct family genetic counseling, and predict the potential for disease recurrence in future pregnancies.

The cost of the TCTN2 gene Joubert Syndrome Type 24 genetic test at DNA Labs UAE is 4400 AED. This investment enables access to cutting-edge genetic testing technology, providing families and individuals with essential information for the proactive management of Joubert Syndrome Type 24, ultimately enhancing the quality of life for those affected by this rare condition.

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TCTN2 Gene Joubert syndrome type 24 Genetic Test

Components:

  • 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 TCTN2 Gene Joubert syndrome type 24 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TCTN2 Gene Joubert syndrome type 24.

Test Details:

The TCTN2 gene is associated with Joubert syndrome type 24, 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,” which can be seen on brain imaging.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of Joubert syndrome type 24, NGS genetic testing can be used to identify mutations or variations in the TCTN2 gene that may be responsible for the disorder.

By identifying these genetic variations, NGS testing can provide a definitive diagnosis for individuals suspected of having Joubert syndrome type 24. This information is valuable for understanding the underlying cause of the disorder and can help guide medical management and genetic counseling for affected individuals and their families.

Test Name TCTN2 Gene Joubert syndrome type 24 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 TCTN2 Gene Joubert syndrome type 24 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TCTN2 Gene Joubert syndrome type 24
Test Details

The TCTN2 gene is associated with Joubert syndrome type 24, 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,” which can be seen on brain imaging.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of Joubert syndrome type 24, NGS genetic testing can be used to identify mutations or variations in the TCTN2 gene that may be responsible for the disorder.

By identifying these genetic variations, NGS testing can provide a definitive diagnosis for individuals suspected of having Joubert syndrome type 24. This information is valuable for understanding the underlying cause of the disorder and can help guide medical management and genetic counseling for affected individuals and their families.