XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test
Welcome to DNA Labs UAE, where we offer the XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test. This test is designed to analyze the XYLT1 gene for any mutations or variations that could be causing Desbuquois dysplasia type 2, a rare genetic disorder characterized by skeletal abnormalities.
Test Details
The XYLT1 gene is responsible for providing instructions for the production of an enzyme called xylosyltransferase 1. This enzyme is involved in the addition of sugar molecules to proteins, a process called glycosylation. By analyzing the XYLT1 gene, our NGS (Next-Generation Sequencing) Genetic Testing technique can identify genetic variations or mutations that may be associated with Desbuquois dysplasia type 2.
Components and Price
Test Name: XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test
- Components: Blood or Extracted DNA or One drop Blood on FTA Card
- Price: 4400.0 AED
Report Delivery
Reports will be delivered within 3 to 4 weeks.
Method
We utilize NGS Technology for the XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test.
Test Type
This test falls under the category of Dysmorphology.
Doctor and Test Department
This test is conducted by our experienced Pediatricians in the Genetics department.
Pre Test Information
Prior to the test, we require the clinical history of the patient who is undergoing the XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic DNA Test. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with the XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic DNA Test gene (XYLT1).
Test Benefits
The XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test can confirm a diagnosis of Desbuquois dysplasia type 2 and provide valuable information for genetic counseling and management of the condition. It can also assist in identifying carriers of the gene mutation within a family.
Contact Us
If you have any questions or would like to schedule an appointment for the XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test, please contact our DNA Labs UAE.
Test Name | XYLT1 Gene Desbuquois dysplasia 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 XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic DNA Test gene XYLT1 |
Test Details |
The XYLT1 gene is responsible for providing instructions for the production of an enzyme called xylosyltransferase 1. This enzyme is involved in the addition of sugar molecules to proteins, a process called glycosylation. Desbuquois dysplasia type 2 is a rare genetic disorder characterized by skeletal abnormalities, including short stature, joint laxity, and progressive scoliosis. NGS (Next-Generation Sequencing) Genetic Testing is a technique used to analyze multiple genes simultaneously. It allows for the identification of genetic variations or mutations that may be associated with certain disorders or conditions. In the case of Desbuquois dysplasia type 2, an NGS genetic test may be performed to analyze the XYLT1 gene for any mutations or variations that could be causing the disorder. By identifying specific mutations in the XYLT1 gene, NGS genetic testing can help confirm a diagnosis of Desbuquois dysplasia type 2 and provide valuable information for genetic counseling and management of the condition. It can also assist in identifying carriers of the gene mutation within a family. |