COL5A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test
At DNA Labs UAE, we offer the COL5A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test. This test is designed to analyze the COL5A1 gene, which provides instructions for making a protein called collagen type V alpha 1 chain. Collagen is a crucial component of connective tissues, providing structure and support to various parts of the body.
Ehlers-Danlos Syndrome Type 4 (EDS Type 4), also known as vascular Ehlers-Danlos Syndrome (vEDS), is a rare genetic disorder that affects the production of collagen. While most cases of EDS Type 4 are caused by mutations in the COL3A1 gene, it is possible for rare cases to be caused by mutations in the COL5A1 gene as well.
Our NGS (Next-Generation Sequencing) technology allows us to analyze multiple genes simultaneously, including COL3A1 and COL5A1, to confirm a diagnosis of EDS Type 4. The test can be performed using a blood sample, extracted DNA, or one drop of blood on an FTA card.
Test Details
- Test Name: COL5A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test
- Components: COL5A1 gene analysis
- 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 the patient and genetic counseling session to draw a pedigree chart of affected family members
It is important to note that EDS Type 4 is a serious condition that can lead to life-threatening complications, particularly involving blood vessels and organs. If you suspect that you or someone you know may have EDS Type 4, it is crucial to consult with a healthcare professional and undergo appropriate genetic testing and medical evaluation.
Test Name | COL5A1 Gene Ehlers-Danlos syndrome type 4 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 COL5A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL5A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic DNA Test gene COL5A1 |
Test Details |
The COL5A1 gene is responsible for providing instructions for making a protein called collagen type V alpha 1 chain. This protein is a crucial component of connective tissues, which provide structure and support to various parts of the body. Ehlers-Danlos syndrome type 4 (EDS type 4), also known as vascular Ehlers-Danlos syndrome (vEDS), is a rare genetic disorder that affects the production of collagen. Specifically, it is caused by mutations in the COL3A1 gene, which codes for collagen type III alpha 1 chain. However, it is possible that rare cases of EDS type 4 can be caused by mutations in the COL5A1 gene as well. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of Ehlers-Danlos syndrome type 4, NGS genetic testing can be used to identify mutations in the COL3A1 and COL5A1 genes, among others, to confirm a diagnosis. It is important to note that EDS type 4 is a serious condition that can lead to life-threatening complications, particularly involving blood vessels and organs. If you suspect you or someone you know may have EDS type 4, it is crucial to consult with a healthcare professional and undergo appropriate genetic testing and medical evaluation. |