FGFR2 Gene Crouzon Syndrome Genetic Test

At DNA Labs UAE, we offer the FGFR2 Gene Crouzon Syndrome Genetic Test, a comprehensive genetic test that analyzes the FGFR2 gene for mutations associated with Crouzon syndrome.

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

Before undergoing the FGFR2 Gene Crouzon Syndrome Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by Crouzon syndrome. This session will help in understanding the inheritance pattern and guide the testing process.

Test Details

The FGFR2 gene Crouzon Syndrome NGS genetic test is specifically designed to identify mutations associated with Crouzon syndrome. Crouzon syndrome is a rare genetic disorder characterized by abnormal growth of the skull and facial bones, resulting in facial deformities and potential complications with vision, hearing, and breathing.

NGS, or next-generation sequencing, is a high-throughput sequencing technology used in this test. It allows for the simultaneous analysis of multiple genes or even the entire genome. In the case of Crouzon syndrome, NGS technology helps identify mutations or variations in the FGFR2 gene, which is known to be associated with the condition.

The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2. Mutations in this gene can disrupt the normal development and growth of bones and tissues in the skull and face, leading to the characteristic features of Crouzon syndrome.

To perform the FGFR2 Gene Crouzon Syndrome NGS genetic test, a DNA sample is required. This can be obtained through a blood sample or a cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the FGFR2 gene.

The results of the test are crucial in confirming a diagnosis of Crouzon syndrome and providing valuable information for treatment and management options. It is important to note that genetic testing for Crouzon syndrome should be conducted by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.

By offering the FGFR2 Gene Crouzon Syndrome Genetic Test, DNA Labs UAE aims to contribute to the early detection and management of Crouzon syndrome, ultimately improving the quality of life for affected individuals and their families.