SOX9 Gene Campomelic Dysplasia Genetic Test
At DNA Labs UAE, we offer the SOX9 Gene Campomelic dysplasia Genetic Test. This test is designed to identify any mutations or genetic variants in the SOX9 gene, which is critical for the development of various organs and tissues in the body.
Test Details
The SOX9 gene plays a crucial role in the development of organs such as the skeleton, gonads, and cartilage. Mutations in this gene can lead to a rare genetic disorder known as Campomelic dysplasia. This condition is characterized by skeletal abnormalities, including bowing of long bones, shortened limbs, and a small chest. It also affects the reproductive system, resulting in underdeveloped testes in males and ambiguous genitalia in both males and females.
Our SOX9 Gene Campomelic dysplasia Genetic Test utilizes Next-generation sequencing (NGS) technology. NGS allows for the rapid and comprehensive analysis of multiple genes simultaneously. In the case of Campomelic dysplasia, NGS is used to sequence the entire coding region of the SOX9 gene to identify any mutations or genetic variants that may be responsible for the disorder.
Test Components and Price
The cost of the SOX9 Gene Campomelic dysplasia Genetic Test is AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card. The report delivery time is typically 3 to 4 weeks.
Test Type and Doctor
The SOX9 Gene Campomelic dysplasia Genetic Test falls under the category of Dysmorphology. It is recommended to consult with a Pediatrics doctor for this test.
Test Department and Pre Test Information
This test is conducted by our Genetics department. Before undergoing the SOX9 Gene Campomelic dysplasia Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected by the disorder.
Importance of the Test
NGS-based genetic testing for Campomelic dysplasia can help confirm a clinical diagnosis, provide information about the inheritance pattern, and offer genetic counseling for affected individuals and their families. It can also be used for carrier testing in individuals with a family history of the disorder.
It is crucial to note that genetic testing for Campomelic dysplasia should only be performed by a qualified geneticist or genetic counselor. The interpretation of the results can be complex and requires clinical correlation. Additionally, appropriate pre- and post-test counseling should always be provided to ensure individuals fully understand the implications and limitations of the test.
| Test Name | SOX9 Gene Campomelic dysplasia 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 SOX9 Gene Campomelic dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SOX9 Gene Campomelic dysplasia NGS Genetic DNA Test gene SOX9 |
| Test Details |
The SOX9 gene is a critical gene involved in the development of many organs and tissues, including the skeleton, gonads, and cartilage. Mutations in the SOX9 gene can lead to a rare genetic disorder called Campomelic dysplasia. Campomelic dysplasia is characterized by skeletal abnormalities, such as bowing of long bones, shortened limbs, and a small chest. It also affects the development of the reproductive system, resulting in underdeveloped testes in males and ambiguous genitalia in both males and females. Next-generation sequencing (NGS) is a genetic testing method that allows for the rapid and comprehensive analysis of multiple genes simultaneously. In the case of Campomelic dysplasia, NGS can be used to sequence the entire coding region of the SOX9 gene to identify any mutations or genetic variants that may be responsible for the disorder. NGS-based genetic testing for Campomelic dysplasia can help confirm a clinical diagnosis, provide information about the inheritance pattern, and offer genetic counseling for affected individuals and their families. It can also be used for carrier testing in individuals with a family history of the disorder. It is important to note that genetic testing for Campomelic dysplasia should be performed by a qualified geneticist or genetic counselor, as the interpretation of the results can be complex and require clinical correlation. Additionally, genetic testing should always be accompanied by appropriate pre- and post-test counseling to ensure that individuals fully understand the implications and limitations of the test. |
