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CC2D2A Gene Joubert syndrome type 9 Genetic Test

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

-21%

The CC2D2A gene plays a crucial role in the development and function of cell structures that are vital for sensory perception and cell signaling. Mutations in this gene are linked to Joubert syndrome type 9, a rare genetic disorder characterized by the malformation of the cerebellum and brain stem, leading to a range of symptoms including coordination and developmental delays, abnormal eye movements, and breathing irregularities.

To diagnose this condition, a genetic test targeting the CC2D2A gene can be performed. This test involves analyzing the DNA to identify mutations in the CC2D2A gene that are indicative of Joubert syndrome type 9. It is a critical step for families seeking answers about this condition, as it can confirm a diagnosis and help in the management and treatment planning for affected individuals.

In the UAE, DNA Labs UAE offers this specific genetic test for Joubert syndrome type 9. The cost of the test is 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experts in the field of genetic testing, ensuring accurate and reliable results for patients and their families. This test is an essential resource for those affected by or at risk of Joubert syndrome type 9, providing them with crucial information for their health management.

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CC2D2A Gene Joubert Syndrome Type 9 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 CC2D2A Gene Joubert Syndrome Type 9 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CC2D2A Gene Joubert Syndrome Type 9.

Test Details

The CC2D2A gene is associated with Joubert Syndrome Type 9, a rare genetic disorder characterized by neurological abnormalities. Joubert syndrome is a ciliopathy, affecting the function of cilia, which are small hair-like structures found on the surface of cells.

NGS (Next-Generation Sequencing) Genetic Testing is a technique used to analyze multiple genes simultaneously and identify variations or mutations associated with a particular condition. In the case of Joubert Syndrome Type 9, NGS genetic testing can identify mutations in the CC2D2A gene.

By analyzing the CC2D2A gene, NGS testing can help confirm a diagnosis of Joubert Syndrome Type 9 in individuals with symptoms. It can also be used for carrier testing in individuals with a family history of Joubert Syndrome, assessing the risk of passing on the condition to their children.

NGS testing involves obtaining a sample of DNA through a blood sample or cheek swab. The DNA is then sequenced using advanced technology to detect variations or mutations in the CC2D2A gene.

The results of the test provide valuable information for diagnosis, genetic counseling, and potential treatment options for individuals with Joubert Syndrome Type 9.

Test Name CC2D2A Gene Joubert syndrome type 9 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 CC2D2A Gene Joubert syndrome type 9 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CC2D2A Gene Joubert syndrome type 9
Test Details

The CC2D2A gene is associated with Joubert syndrome type 9, which is a rare genetic disorder characterized by neurological abnormalities. Joubert syndrome is a ciliopathy, meaning it affects the function of cilia, which are small hair-like structures found on the surface of cells.

NGS (Next-Generation Sequencing) Genetic Testing is a technique used to analyze multiple genes simultaneously and identify variations or mutations that may be associated with a particular condition. In the case of Joubert syndrome type 9, NGS genetic testing can be used to identify mutations in the CC2D2A gene.

By analyzing the CC2D2A gene, NGS testing can help confirm a diagnosis of Joubert syndrome type 9 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, allowing them to assess the risk of passing on the condition to their children.

NGS testing typically involves obtaining a sample of DNA, either through a blood sample or a cheek swab. The DNA is then sequenced using advanced technology, which allows for the detection of variations or mutations in the CC2D2A gene. The results of the test can provide valuable information for diagnosis, genetic counseling, and potential treatment options for individuals with Joubert syndrome type 9.

SKU: TEST-1470 Category:

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