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PDE6D Gene Joubert Syndrome Type 22 Genetic Test

4,400 د.إ

-21%

The PDE6D Gene Joubert Syndrome Type 22 Genetic Test is a specialized diagnostic assessment aimed at identifying mutations in the PDE6D gene, which are implicated in the development of Joubert Syndrome Type 22 (JBTS22). This rare genetic disorder is characterized by a distinctive malformation of the cerebellum, leading to a range of neurological symptoms, including ataxia, hypotonia, and developmental delays. The test is crucial for early diagnosis and management of the condition, allowing for tailored therapeutic interventions and genetic counseling for affected families.

Performed at DNA Labs UAE, the test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed using advanced genetic sequencing techniques to detect mutations in the PDE6D gene. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately diagnose this complex condition. Early detection through the PDE6D Gene Joubert Syndrome Type 22 Genetic Test can significantly impact the quality of life for individuals with JBTS22, providing insights into potential treatments and supportive measures to manage symptoms.

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PDE6D Gene Joubert Syndrome Type 22 Genetic Test

At DNA Labs UAE, we offer the PDE6D Gene Joubert Syndrome Type 22 Genetic Test. This test is designed to detect genetic variants associated with Joubert syndrome type 22, a rare genetic disorder that affects brain development.

Test Components

The PDE6D Gene Joubert Syndrome Type 22 Genetic Test includes the following 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

Prior to undergoing the PDE6D Gene Joubert Syndrome Type 22 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by Joubert syndrome type 22.

Test Details

The PDE6D gene is associated with Joubert syndrome type 22, a rare genetic disorder that affects brain development. This syndrome is characterized by a malformation of the cerebellar vermis, resulting in a distinct brainstem and midbrain abnormality known as the “molar tooth sign.”

The PDE6D Gene Joubert Syndrome Type 22 Genetic Test utilizes NGS (Next-Generation Sequencing) technology to analyze multiple genes simultaneously. This allows for the detection of genetic variants associated with various disorders, including Joubert syndrome type 22. By sequencing the DNA of an individual, this test can identify mutations or changes in the PDE6D gene that may be responsible for the condition.

It is important to note that NGS genetic testing for Joubert syndrome type 22 may not be available in all healthcare facilities. Therefore, consultation with a geneticist or genetic counselor is necessary to determine the availability of the test and to obtain further information about its benefits, limitations, and implications for the individual and their family.

Test Name PDE6D Gene Joubert syndrome type 22 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 PDE6D Gene Joubert syndrome type 22 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PDE6D Gene Joubert syndrome type 22
Test Details

The PDE6D gene is associated with Joubert syndrome type 22, a rare genetic disorder that affects the development of the brain. Joubert syndrome is characterized by a malformation of the cerebellar vermis, leading to a distinctive brainstem and midbrain abnormality known as the “molar tooth sign.”

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously, allowing for the detection of genetic variants associated with various disorders. In the case of Joubert syndrome type 22, NGS genetic testing can identify mutations or changes in the PDE6D gene that may be responsible for the condition.

This type of genetic testing involves sequencing the DNA of an individual to identify specific variations or mutations in the PDE6D gene. The results of the test can help confirm a diagnosis of Joubert syndrome type 22 and provide information about the specific genetic variant present.

It is important to note that NGS genetic testing for Joubert syndrome type 22 may not be available in all healthcare facilities and requires consultation with a geneticist or genetic counselor. These professionals can provide further information about the test, its benefits, limitations, and implications for the individual and their family.