EYA1 Gene Otofaciocervical syndrome Genetic Test
Components: EYA1 Gene Otofaciocervical syndrome Genetic Test
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 EYA1 Gene Otofaciocervical syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EYA1 Gene Otofaciocervical syndrome NGS Genetic DNA Test gene EYA1
Test Details
The EYA1 gene is responsible for producing a protein that plays a crucial role in the development of various tissues and organs in the body, including the ears, face, and neck. Mutations in this gene can lead to a rare genetic disorder known as otofaciocervical syndrome.
Otofaciocervical syndrome is characterized by a combination of hearing loss, facial abnormalities, and neck anomalies. Individuals with this condition may have hearing impairment ranging from mild to profound, and they may also have a distinctive facial appearance, including a flat nasal bridge, widely spaced eyes, and small ears. Neck abnormalities can include a short neck and extra folds of skin.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of otofaciocervical syndrome, NGS genetic testing can be used to identify mutations in the EYA1 gene. This can help confirm a diagnosis of the condition and provide information about the specific genetic changes present.
NGS genetic testing is a powerful tool in the field of genetics, as it allows for the analysis of multiple genes in a single test, making it more efficient and cost-effective compared to traditional sequencing methods. It can provide valuable information for genetic counseling, treatment planning, and management of individuals with otofaciocervical syndrome.
Test Name | EYA1 Gene Otofaciocervical 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 EYA1 Gene Otofaciocervical syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EYA1 Gene Otofaciocervical syndrome NGS Genetic DNA Test gene EYA1 |
Test Details |
The EYA1 gene is responsible for producing a protein that plays a crucial role in the development of various tissues and organs in the body, including the ears, face, and neck. Mutations in this gene can lead to a rare genetic disorder known as otofaciocervical syndrome. Otofaciocervical syndrome is characterized by a combination of hearing loss, facial abnormalities, and neck anomalies. Individuals with this condition may have hearing impairment ranging from mild to profound, and they may also have a distinctive facial appearance, including a flat nasal bridge, widely spaced eyes, and small ears. Neck abnormalities can include a short neck and extra folds of skin. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of otofaciocervical syndrome, NGS genetic testing can be used to identify mutations in the EYA1 gene. This can help confirm a diagnosis of the condition and provide information about the specific genetic changes present. NGS genetic testing is a powerful tool in the field of genetics, as it allows for the analysis of multiple genes in a single test, making it more efficient and cost-effective compared to traditional sequencing methods. It can provide valuable information for genetic counseling, treatment planning, and management of individuals with otofaciocervical syndrome. |