EDNRB Gene Waardenburg syndrome/Hirschsprung disease Genetic Test
At DNA Labs UAE, we offer the EDNRB Gene Waardenburg syndrome/Hirschsprung disease Genetic Test. This test helps in the diagnosis of genetic disorders that affect different systems in the body. The test is conducted using NGS (Next-Generation Sequencing) technology, which allows for a comprehensive analysis of multiple genes simultaneously.
Test Components
The components of the EDNRB Gene Waardenburg syndrome/Hirschsprung disease Genetic Test include:
- EDNRB Gene
Price
The cost of the EDNRB Gene Waardenburg syndrome/Hirschsprung disease Genetic Test is AED 4400.0.
Sample Condition
The test can be conducted using the following sample conditions:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
Report Delivery
The report for the test will be delivered within 3 to 4 weeks.
Method
The EDNRB Gene Waardenburg syndrome/Hirschsprung disease Genetic Test is conducted using NGS (Next-Generation Sequencing) technology.
Test Type
The test is specifically designed to diagnose neurological disorders.
Doctor
The test is conducted under the guidance of a Neurologist.
Test Department
The test is conducted in the Genetics department.
Pre Test Information
Prior to conducting the EDNRB Gene Waardenburg syndrome/Hirschsprung disease Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected with EDNRB Gene Waardenburg syndrome/Hirschsprung disease.
Test Details
The EDNRB gene is associated with both Waardenburg syndrome and Hirschsprung disease. Waardenburg syndrome primarily affects the pigmentation of the hair, skin, and eyes, and can also cause hearing loss and abnormalities in the structure of the inner ear. Hirschsprung disease affects the large intestine (colon) and causes problems with bowel movements due to missing nerve cells in the colon. NGS genetic testing is used to identify mutations or variations in the EDNRB gene associated with these conditions, allowing for a more accurate diagnosis and appropriate management.
It is important to note that genetic testing should always be conducted under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.
Test Name | EDNRB Gene Waardenburg syndromeHirschsprung disease Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for EDNRB Gene Waardenburg syndrome/Hirschsprung disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EDNRB Gene Waardenburg syndrome/Hirschsprung disease |
Test Details |
The EDNRB gene is associated with both Waardenburg syndrome and Hirschsprung disease. These conditions are genetic disorders that affect different systems in the body. Waardenburg syndrome is a group of genetic conditions that primarily affect the pigmentation of the hair, skin, and eyes. It can also cause hearing loss and abnormalities in the structure of the inner ear. There are several types of Waardenburg syndrome, with different genetic mutations causing each type. The EDNRB gene mutation is associated with Waardenburg syndrome type 4, which is characterized by pigmentation changes, hearing loss, and Hirschsprung disease. Hirschsprung disease, also known as congenital aganglionic megacolon, is a condition that affects the large intestine (colon) and causes problems with bowel movements. In individuals with Hirschsprung disease, nerve cells in the colon are missing, leading to a blockage and inability to pass stool. This condition is typically present from birth and requires surgical intervention to correct. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of the EDNRB gene, NGS genetic testing can be used to identify mutations or variations in the gene that are associated with Waardenburg syndrome and Hirschsprung disease. This type of testing can provide a comprehensive analysis of multiple genes involved in these conditions, allowing for a more accurate diagnosis and appropriate management of the affected individuals. It is important to note that genetic testing should be conducted under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. |