TFAP2A Gene Branchiooculofacial syndrome Genetic Test
Cost: AED 4400.0
Symptoms and Diagnosis
The TFAP2A gene is associated with a rare genetic disorder called Branchiooculofacial syndrome (BOFS). BOFS is characterized by specific facial features, abnormalities of the eyes, ears, and branchial arches, and sometimes intellectual disability.
Test Components
- NGS Technology
- Dysmorphology Test Type
- Genetics Test Department
Sample Condition
Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery
3 to 4 Weeks
Doctor
Pediatrics
Pre Test Information
A Genetic Counselling session to draw a pedigree chart of family members affected with TFAP2A Gene Branchiooculofacial syndrome NGS Genetic DNA Test gene TFAP2A
Test Details
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of BOFS, NGS genetic testing can be used to identify mutations or variations in the TFAP2A gene that may be responsible for causing the syndrome. By analyzing the entire coding region of the TFAP2A gene, NGS testing can provide a comprehensive and accurate assessment of any genetic changes that may be present. This can help in confirming a diagnosis of BOFS and providing valuable information for genetic counseling and management of the condition.
It is important to note that NGS genetic testing for BOFS may not be available in all healthcare settings and may require consultation with a geneticist or genetic counselor. Additionally, the results of genetic testing should always be interpreted in conjunction with other clinical findings and family history to ensure accurate diagnosis and appropriate management.
Test Name | TFAP2A Gene Branchiooculofacial syndrome 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 TFAP2A Gene Branchiooculofacial syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TFAP2A Gene Branchiooculofacial syndrome NGS Genetic DNA Test gene TFAP2A |
Test Details |
The TFAP2A gene is associated with a condition called Branchiooculofacial syndrome (BOFS). BOFS is a rare genetic disorder characterized by specific facial features, abnormalities of the eyes, ears, and branchial arches, and sometimes intellectual disability. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of BOFS, NGS genetic testing can be used to identify mutations or variations in the TFAP2A gene that may be responsible for causing the syndrome. By analyzing the entire coding region of the TFAP2A gene, NGS testing can provide a comprehensive and accurate assessment of any genetic changes that may be present. This can help in confirming a diagnosis of BOFS and providing valuable information for genetic counseling and management of the condition. It is important to note that NGS genetic testing for BOFS may not be available in all healthcare settings and may require consultation with a geneticist or genetic counselor. Additionally, the results of genetic testing should always be interpreted in conjunction with other clinical findings and family history to ensure accurate diagnosis and appropriate management. |