DHODH Gene Postaxial acrofacial dysostosis Genetic Test
Test Name: DHODH Gene Postaxial acrofacial dysostosis 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: Dysmorphology
Doctor: Pediatrics
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for DHODH Gene Postaxial acrofacial dysostosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHODH Gene Postaxial acrofacial dysostosis NGS Genetic DNA Test gene DHODH
Test Details: Postaxial acrofacial dysostosis is a rare genetic disorder characterized by abnormalities in the development of the face, hands, and feet. It is caused by mutations in the DHODH gene. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously and identify mutations or variations in their sequences. In the context of postaxial acrofacial dysostosis, NGS genetic testing can be used to identify mutations in the DHODH gene that may be responsible for the disorder. The DHODH gene provides instructions for producing the enzyme dihydroorotate dehydrogenase, which is involved in the production of pyrimidine, a building block of DNA and RNA. Mutations in this gene can disrupt the normal functioning of the enzyme, leading to the development of postaxial acrofacial dysostosis. NGS genetic testing for DHODH gene mutations can help in diagnosing individuals with postaxial acrofacial dysostosis, especially in cases where the clinical features of the disorder are not clearly evident. It can also provide valuable information for genetic counseling and family planning. It is important to note that NGS genetic testing for DHODH gene mutations is typically performed by healthcare professionals or geneticists who specialize in genetic testing and interpretation. The results of the test should be discussed with a healthcare provider to understand their implications and potential treatment options.
Test Name | DHODH Gene Postaxial acrofacial dysostosis 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 DHODH Gene Postaxial acrofacial dysostosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHODH Gene Postaxial acrofacial dysostosis NGS Genetic DNA Test gene DHODH |
Test Details |
Postaxial acrofacial dysostosis is a rare genetic disorder characterized by abnormalities in the development of the face, hands, and feet. It is caused by mutations in the DHODH gene. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously and identify mutations or variations in their sequences. In the context of postaxial acrofacial dysostosis, NGS genetic testing can be used to identify mutations in the DHODH gene that may be responsible for the disorder. The DHODH gene provides instructions for producing the enzyme dihydroorotate dehydrogenase, which is involved in the production of pyrimidine, a building block of DNA and RNA. Mutations in this gene can disrupt the normal functioning of the enzyme, leading to the development of postaxial acrofacial dysostosis. NGS genetic testing for DHODH gene mutations can help in diagnosing individuals with postaxial acrofacial dysostosis, especially in cases where the clinical features of the disorder are not clearly evident. It can also provide valuable information for genetic counseling and family planning. It is important to note that NGS genetic testing for DHODH gene mutations is typically performed by healthcare professionals or geneticists who specialize in genetic testing and interpretation. The results of the test should be discussed with a healthcare provider to understand their implications and potential treatment options. |