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XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The XYLT1 gene is crucial in the biosynthesis of proteoglycans, which are important components of the extracellular matrix. Mutations in the XYLT1 gene have been linked to Desbuquois dysplasia type 2, a rare genetic disorder characterized by skeletal abnormalities, short stature, and distinctive facial features. To diagnose this condition, genetic testing is pivotal.

At DNA Labs UAE, individuals can undergo a genetic test specifically designed to detect mutations in the XYLT1 gene associated with Desbuquois dysplasia type 2. The test involves collecting a DNA sample, usually through a blood draw or a cheek swab, which is then analyzed in the laboratory to identify any genetic alterations in the XYLT1 gene that might indicate the presence of the disorder.

The cost of the XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test at DNA Labs UAE is set at 4400 AED. This cost encompasses the full process of sample collection, genetic analysis, and the provision of a comprehensive report detailing the test results. Given the complexity of genetic testing and the specialized analysis required, the price reflects the intricate processes and expertise involved in providing accurate and reliable results.

This genetic test is a valuable tool for families with a history of Desbuquois dysplasia type 2 or for individuals exhibiting symptoms of the disorder. Early diagnosis through genetic testing can facilitate appropriate medical management and interventions, potentially improving the quality of life for affected individuals.

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  • This test is not intended for medical diagnosis or treatment
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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.

SKU: TEST-4092 Category:

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