CHD7 Gene CHARGE Syndrome Genetic Test
At DNA Labs UAE, we offer the CHD7 Gene CHARGE Syndrome Genetic Test to help diagnose and identify mutations associated with CHARGE syndrome. This test is essential in understanding the genetic factors contributing to the disorder and providing valuable information for treatment and family planning.
Test Details
The CHD7 gene is responsible for producing a protein called chromodomain-helicase-DNA-binding protein 7. This protein plays a crucial role in the development of various tissues and organs, including the brain, heart, and ears. CHARGE syndrome is a rare genetic disorder caused by mutations in the CHD7 gene.
CHARGE syndrome is characterized by a range of symptoms and features, including coloboma (a structural abnormality of the eye), heart defects, choanal atresia (blockage of the nasal passages), developmental delays, genital and urinary abnormalities, and ear abnormalities, among others.
The CHD7 Gene CHARGE Syndrome Genetic Test utilizes next-generation sequencing (NGS) technology. NGS allows for the simultaneous analysis of multiple genes or the entire genome. In the context of CHARGE syndrome, NGS genetic testing can identify mutations in the CHD7 gene associated with the disorder.
Test Components
- Test Name: CHD7 Gene CHARGE 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
Prior to undergoing the CHD7 Gene CHARGE Syndrome Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by CHD7 Gene CHARGE Syndrome NGS Genetic DNA Test gene CHD7.
Conclusion
The CHD7 Gene CHARGE Syndrome Genetic Test offered by DNA Labs UAE is a valuable tool in diagnosing and understanding CHARGE syndrome. With its use of NGS technology, this test can identify mutations in the CHD7 gene, providing crucial information for accurate diagnosis, treatment planning, carrier testing, and prenatal testing.
Test Name | CHD7 Gene CHARGE 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 CHD7 Gene CHARGE syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHD7 Gene CHARGE syndrome NGS Genetic DNA Test gene CHD7 |
Test Details |
The CHD7 gene is a gene that provides instructions for making a protein called chromodomain-helicase-DNA-binding protein 7. This protein is involved in the development of many tissues and organs in the body, including the brain, heart, and ears. CHARGE syndrome is a rare genetic disorder that is caused by mutations in the CHD7 gene. It is characterized by a variety of symptoms and features, including coloboma (a hole or gap in one of the structures of the eye), heart defects, atresia (blockage) of the choanae (the passages that connect the back of the nose to the throat), growth and developmental delays, genital and urinary abnormalities, and ear abnormalities, among others. NGS, or next-generation sequencing, is a genetic testing method that allows for the simultaneous analysis of multiple genes or the entire genome. In the context of CHARGE syndrome, NGS genetic testing can be used to identify mutations in the CHD7 gene that are associated with the disorder. This can help in confirming a diagnosis of CHARGE syndrome and in providing information about the specific mutation that is causing the condition. It can also be used for carrier testing and prenatal testing in families with a known CHD7 mutation. |