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COL11A1 Gene Fibrochondrogenesis Type 1 Genetic Test

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

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The COL11A1 gene plays a critical role in the development of connective tissues in the body, particularly in the formation of collagen type XI, which is essential for the proper development of bones and cartilage. Mutations in the COL11A1 gene can lead to a rare genetic disorder known as Fibrochondrogenesis Type 1. This condition is characterized by short stature, a narrow chest, short limbs, and other skeletal abnormalities that can significantly impact an individual’s quality of life.

To diagnose this condition, a genetic test targeting the COL11A1 gene can be conducted. This test involves analyzing the DNA to identify mutations in the COL11A1 gene that are responsible for Fibrochondrogenesis Type 1. Early diagnosis through genetic testing is crucial for the management of the condition, allowing for appropriate medical interventions and genetic counseling for affected families.

In the UAE, DNA Labs offers this specialized genetic test for Fibrochondrogenesis Type 1. The test is priced at 4400 AED, reflecting the comprehensive analysis and detailed report provided by the lab. Conducting this test at DNA Labs UAE ensures that individuals and families receive accurate and reliable results, aiding in the diagnosis and understanding of Fibrochondrogenesis Type 1, and facilitating informed decisions regarding treatment and management options.

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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.

SKU: TEST-4110 Category:

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