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. |
