COL2A1 Gene Achondrogenesis type 2 Genetic Test
At DNA Labs UAE, we offer the COL2A1 Gene Achondrogenesis type 2 Genetic Test to provide comprehensive analysis and diagnosis for this rare genetic disorder.
Test Details
The COL2A1 gene is responsible for providing instructions for the production of type II collagen, a protein crucial for building the body’s connective tissues. Mutations in the COL2A1 gene can lead to a condition called achondrogenesis type 2, which affects skeletal development.
Babies born with achondrogenesis type 2 typically exhibit extremely short limbs, a small chest, a narrow ribcage, a small jaw, and a prominent forehead. In severe cases, infants may be stillborn or die shortly after birth due to respiratory complications.
Components
- Test Name: COL2A1 Gene Achondrogenesis type 2 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: Osteology Dermatology Immunology Disorders
- Doctor: Dermatologist
- Test Department: Genetics
Pre Test Information
Prior to undergoing the COL2A1 Gene Achondrogenesis type 2 NGS Genetic DNA 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 COL2A1 Gene Achondrogenesis type 2 NGS Genetic DNA Test gene (COL2A1).
NGS Technology
NGS (Next-Generation Sequencing) genetic testing is a state-of-the-art method that allows for the simultaneous analysis of multiple genes. By sequencing the DNA of an individual, healthcare professionals can identify any mutations or variations present in specific genes, including the COL2A1 gene.
Benefits of Genetic Testing
The COL2A1 Gene Achondrogenesis type 2 NGS Genetic DNA Test can confirm a diagnosis of achondrogenesis type 2 and determine the specific genetic cause of the condition. This information is crucial for understanding the implications of the findings and making informed decisions regarding family planning and reproductive options.
Carrier screening is another important application of genetic testing. It helps identify individuals who may carry a mutation in the COL2A1 gene and have a higher risk of passing it on to their children.
Expert Guidance
It is important to note that genetic testing should be performed and interpreted by healthcare professionals specializing in genetics. At DNA Labs UAE, our team of experts provides comprehensive guidance, counseling, and support based on the test results.
For more information or to schedule an appointment for the COL2A1 Gene Achondrogenesis type 2 Genetic Test, please contact DNA Labs UAE.
| Test Name | COL2A1 Gene Achondrogenesis type 2 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 | Osteology Dermatology Immunology Disorders |
| Doctor | Dermatologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for COL2A1 Gene Achondrogenesis type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Achondrogenesis type 2 NGS Genetic DNA Test gene COL2A1 |
| Test Details |
The COL2A1 gene is responsible for providing instructions for the production of type II collagen, which is a protein that helps build the body’s connective tissues. Mutations in the COL2A1 gene can lead to a condition called achondrogenesis type 2. Achondrogenesis type 2 is a rare genetic disorder that affects skeletal development. Babies born with this condition typically have extremely short limbs, a small chest, and a narrow ribcage. They may also have a small jaw and a prominent forehead. In severe cases, babies with achondrogenesis type 2 may be stillborn or die shortly after birth due to respiratory complications. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to analyze multiple genes simultaneously. It involves sequencing the DNA of an individual to identify any mutations or variations that may be present in specific genes, such as the COL2A1 gene. By performing an NGS genetic test on the COL2A1 gene, healthcare professionals can identify any mutations or variations that may be present in the gene. This can help in confirming a diagnosis of achondrogenesis type 2 and determining the specific genetic cause of the condition. Genetic testing can also be used for carrier screening, which can help identify individuals who may carry a mutation in the COL2A1 gene and have a higher risk of passing it on to their children. This information can be valuable for family planning and making informed decisions about reproductive options. It’s important to note that genetic testing should be performed and interpreted by healthcare professionals who specialize in genetics. They can provide guidance and counseling based on the test results and help individuals and families understand the implications of the findings. |
