COL11A1 Gene Fibrochondrogenesis type 1 Genetic Test
At DNA Labs UAE, we offer the COL11A1 Gene Fibrochondrogenesis type 1 Genetic Test. This test is designed to detect mutations in the COL11A1 gene, which is responsible for providing instructions for making a protein called collagen type XI alpha 1 chain. Mutations in this gene can lead to fibrochondrogenesis type 1, a rare genetic disorder characterized by abnormal development of the skeleton.
Test Details
The COL11A1 gene is responsible for the production of collagen type XI alpha 1 chain, a component of fibrillar collagen found in various tissues in the body, including cartilage, tendons, and the vitreous humor of the eyeball. Fibrochondrogenesis type 1 is caused by mutations in the COL11A1 gene and is characterized by short limbs, a small chest, a narrow rib cage, and distinctive facial features such as a small chin, prominent eyes, and a flattened nose.
Test Components
- Test Name: COL11A1 Gene Fibrochondrogenesis type 1 Genetic Test
- 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: Dysmorphology
- Doctor: Pediatrics
- Test Department: Genetics
Pre Test Information
Before undergoing the COL11A1 Gene Fibrochondrogenesis type 1 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the gene COL11A1.
NGS Technology
NGS (Next-Generation Sequencing) genetic testing is a rapid and simultaneous sequencing method used to detect mutations in multiple genes or entire genomes. It is particularly useful for detecting mutations in the COL11A1 gene and other genes associated with fibrochondrogenesis type 1. This type of testing can confirm a diagnosis, guide treatment decisions, and provide information about the likelihood of passing the condition on to future generations.
Test Name | COL11A1 Gene Fibrochondrogenesis type 1 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 | Dysmorphology |
Doctor | Pediatrics |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic DNA Test gene COL11A1 |
Test Details |
The COL11A1 gene is responsible for providing instructions for making a protein called collagen type XI alpha 1 chain. This protein is a component of a type of collagen called fibrillar collagen, which is found in various tissues in the body, including cartilage, tendons, and the jelly-like substance in the eyeball called the vitreous humor. Fibrochondrogenesis type 1 is a rare genetic disorder that is caused by mutations in the COL11A1 gene. It is characterized by abnormal development of the skeleton, particularly the bones and cartilage. Individuals with this condition typically have short limbs, a small chest, and a narrow, bell-shaped rib cage. They may also have a distinctive facial appearance, with a small chin, prominent eyes, and a flattened nose. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the rapid and simultaneous sequencing of multiple genes or even entire genomes. It can be used to detect mutations in the COL11A1 gene and other genes associated with fibrochondrogenesis type 1. This type of testing can help confirm a diagnosis, guide treatment decisions, and provide information about the likelihood of passing the condition on to future generations. |