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CC2D2A Gene COACH Syndrome Genetic Test

4,400 د.إ

-21%

The CC2D2A gene plays a critical role in the proper development and functioning of several body parts, including the brain and kidneys. Mutations in the CC2D2A gene are linked to COACH Syndrome, a rare genetic disorder characterized by Coloboma (a defect in the eye’s iris or retina), Oligophrenia (developmental delays), Ataxia (lack of muscle coordination), Cerebellar hypoplasia (underdeveloped cerebellum), and Hepatic fibrosis (scarring of the liver).

To diagnose COACH Syndrome, a genetic test targeting the CC2D2A gene can be conducted. This test is crucial for confirming the diagnosis, understanding the severity of the condition, and guiding treatment and management decisions.

In the United Arab Emirates, DNA Labs UAE offers this specific genetic test for COACH Syndrome. The cost of the test is set at 4400 AED. DNA Labs UAE is known for its advanced genetic testing services, providing accurate and reliable results that are crucial for patients and their families dealing with genetic conditions like COACH Syndrome.

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CC2D2A Gene COACH syndrome Genetic Test

Test Details

CC2D2A is a gene that codes for a protein involved in the development and function of cilia, which are hair-like structures found on the surface of cells. Mutations in this gene can cause a rare genetic disorder called COACH syndrome, which stands for Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the rapid sequencing of large amounts of DNA. It can be used to identify mutations in genes such as CC2D2A that may be responsible for genetic disorders like COACH syndrome.

Individuals with COACH syndrome may have a range of symptoms, including developmental delay, intellectual disability, vision problems, liver disease, and problems with coordination and balance. NGS genetic testing can help to diagnose COACH syndrome and guide treatment and management strategies for affected individuals.

Test Name: CC2D2A Gene COACH syndrome 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 COACH syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CC2D2A Gene COACH syndrome.

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

CC2D2A is a gene that codes for a protein involved in the development and function of cilia, which are hair-like structures found on the surface of cells. Mutations in this gene can cause a rare genetic disorder called COACH syndrome, which stands for Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the rapid sequencing of large amounts of DNA. It can be used to identify mutations in genes such as CC2D2A that may be responsible for genetic disorders like COACH syndrome.

Individuals with COACH syndrome may have a range of symptoms, including developmental delay, intellectual disability, vision problems, liver disease, and problems with coordination and balance. NGS genetic testing can help to diagnose COACH syndrome and guide treatment and management strategies for affected individuals.