COL2A1 Gene Achondrogenesis type 2 Genetic Test
Test Name: COL2A1 Gene Achondrogenesis type 2 Genetic Test
Components: COL2A1 gene
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 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 is essential for the development and maintenance of cartilage and other connective tissues in the body. Mutations in the COL2A1 gene can lead to a group of genetic disorders known as type II collagenopathies.
One specific type II collagenopathy is Achondrogenesis type 2, which is a severe and rare form of skeletal dysplasia. It is characterized by abnormal development of the bones and cartilage, resulting in extremely short limbs, a small chest, and other skeletal abnormalities. Babies affected by Achondrogenesis type 2 are usually stillborn or die shortly after birth.
NGS (Next-Generation Sequencing) is a high-throughput sequencing technology that allows for the rapid and cost-effective analysis of large amounts of DNA. NGS genetic testing involves sequencing the entire coding region of the COL2A1 gene to identify any mutations or variants that may be present.
A NGS genetic test for Achondrogenesis type 2 would involve collecting a sample of DNA, usually through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology, and the resulting data is analyzed to identify any mutations or variants in the COL2A1 gene that may be associated with Achondrogenesis type 2.
This genetic test can be used to confirm a diagnosis of Achondrogenesis type 2 in individuals with suspected symptoms or family history of the condition. It can also be used for carrier testing in individuals with a family history of Achondrogenesis type 2, as carriers of COL2A1 mutations have a 25% chance of passing on the condition to their children.
It is important to note that genetic testing for Achondrogenesis type 2 should be performed by a qualified healthcare professional or genetic counselor, who can provide appropriate counseling and support based on the results of the test.
| 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 | Dysmorphology |
| Doctor | Pediatrics |
| 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 is essential for the development and maintenance of cartilage and other connective tissues in the body. Mutations in the COL2A1 gene can lead to a group of genetic disorders known as type II collagenopathies. One specific type II collagenopathy is Achondrogenesis type 2, which is a severe and rare form of skeletal dysplasia. It is characterized by abnormal development of the bones and cartilage, resulting in extremely short limbs, a small chest, and other skeletal abnormalities. Babies affected by Achondrogenesis type 2 are usually stillborn or die shortly after birth. NGS (Next-Generation Sequencing) is a high-throughput sequencing technology that allows for the rapid and cost-effective analysis of large amounts of DNA. NGS genetic testing involves sequencing the entire coding region of the COL2A1 gene to identify any mutations or variants that may be present. A NGS genetic test for Achondrogenesis type 2 would involve collecting a sample of DNA, usually through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology, and the resulting data is analyzed to identify any mutations or variants in the COL2A1 gene that may be associated with Achondrogenesis type 2. This genetic test can be used to confirm a diagnosis of Achondrogenesis type 2 in individuals with suspected symptoms or family history of the condition. It can also be used for carrier testing in individuals with a family history of Achondrogenesis type 2, as carriers of COL2A1 mutations have a 25% chance of passing on the condition to their children. It is important to note that genetic testing for Achondrogenesis type 2 should be performed by a qualified healthcare professional or genetic counselor, who can provide appropriate counseling and support based on the results of the test. |
