COL17A1 Gene Epidermolysis Bullosa Junctional Genetic Test
Test Name: COL17A1 Gene Epidermolysis bullosa junctional Genetic Test
Components: NGS Technology
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Test Type: Osteology Dermatology Immunology Disorders
Doctor: Dermatologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic DNA Test gene COL17A1
Test Details
The COL17A1 gene is responsible for providing instructions to produce a protein called collagen type XVII alpha 1 chain. This protein is a component of the structures that anchor the outer layer of skin (epidermis) to the underlying layer (dermis).
Epidermolysis bullosa (EB) is a group of genetic disorders characterized by extremely fragile skin that blisters and forms sores with minimal friction or trauma. Junctional epidermolysis bullosa (JEB) is a specific type of EB caused by mutations in the COL17A1 gene.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the context of epidermolysis bullosa, NGS genetic testing can identify mutations in the COL17A1 gene, allowing for a diagnosis of JEB.
This genetic test involves extracting DNA from a patient’s blood or saliva sample and sequencing the entire COL17A1 gene. The sequencing data is then compared to a reference sequence to identify any genetic variations or mutations that may be present.
By identifying specific mutations in the COL17A1 gene, NGS genetic testing can confirm a diagnosis of JEB and provide information about the specific mutation(s) present. This information can be helpful in determining the severity of the disease, predicting potential complications, and guiding treatment options.
| Test Name | COL17A1 Gene Epidermolysis bullosa junctional 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 COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic DNA Test gene COL17A1 |
| Test Details |
The COL17A1 gene is responsible for providing instructions to produce a protein called collagen type XVII alpha 1 chain. This protein is a component of the structures that anchor the outer layer of skin (epidermis) to the underlying layer (dermis). Epidermolysis bullosa (EB) is a group of genetic disorders characterized by extremely fragile skin that blisters and forms sores with minimal friction or trauma. Junctional epidermolysis bullosa (JEB) is a specific type of EB caused by mutations in the COL17A1 gene. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the context of epidermolysis bullosa, NGS genetic testing can identify mutations in the COL17A1 gene, allowing for a diagnosis of JEB. This genetic test involves extracting DNA from a patient’s blood or saliva sample and sequencing the entire COL17A1 gene. The sequencing data is then compared to a reference sequence to identify any genetic variations or mutations that may be present. By identifying specific mutations in the COL17A1 gene, NGS genetic testing can confirm a diagnosis of JEB and provide information about the specific mutation(s) present. This information can be helpful in determining the severity of the disease, predicting potential complications, and guiding treatment options. |
