CCDC114 Gene Primary ciliary dyskinesia type 20 Genetic Test
At DNA Labs UAE, we offer the CCDC114 Gene Primary ciliary dyskinesia type 20 Genetic Test. This test is designed to detect mutations in the CCDC114 gene, which is associated with primary ciliary dyskinesia type 20 (PCD20). PCD20 is a rare genetic disorder that affects the function of cilia, hair-like structures found on the surface of cells.
The test is priced at 4400.0 AED and can be conducted using a blood sample, extracted DNA, or one drop of blood on an FTA Card. The report will be delivered within 3 to 4 weeks using NGS (Next-Generation Sequencing) technology.
The CCDC114 Gene Primary ciliary dyskinesia type 20 Genetic Test falls under the category of Ear Nose Throat Disorders and is performed by an ENT Doctor in our Genetics department.
Test Details
PCD20 is characterized by the disruption of cilia structure and function due to mutations in the CCDC114 gene. Cilia play a crucial role in various physiological processes, such as the movement of mucus and other substances in the respiratory tract, reproductive system, and other organs.
Common symptoms of PCD20 include chronic respiratory infections, persistent cough, nasal congestion, and infertility in males due to impaired sperm motility.
NGS genetic testing is used to analyze multiple genes simultaneously and identify mutations or variations that may be responsible for a specific genetic disorder. In the case of PCD20, NGS genetic testing can detect mutations in the CCDC114 gene and confirm a diagnosis.
The CCDC114 Gene Primary ciliary dyskinesia type 20 Genetic Test provides an accurate diagnosis, helps understand the underlying cause of the condition, and guides appropriate treatment and management strategies. It also offers valuable information for genetic counseling and family planning.
Prior to undergoing the test, it is important to consult with a healthcare professional or genetic counselor to discuss the benefits, limitations, and implications of genetic testing.
Test Name | CCDC114 Gene Primary ciliary dyskinesia type 20 Genetic Test |
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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 | Ear Nose Throat Disorders |
Doctor | ENT Doctor |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test gene SLC52A18 |
Test Details |
The CCDC114 gene is associated with primary ciliary dyskinesia type 20 (PCD20), a rare genetic disorder that affects the function of cilia. Cilia are tiny hair-like structures found on the surface of cells and play a crucial role in various physiological processes, including the movement of mucus and other substances in the respiratory tract, reproductive system, and other organs. Mutations in the CCDC114 gene can disrupt the structure and function of cilia, leading to the development of PCD20. Symptoms of PCD20 can vary but often include chronic respiratory infections, persistent cough, nasal congestion, and infertility in males due to impaired sperm motility. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify mutations or variations that may be responsible for a particular genetic disorder. In the case of PCD20, NGS genetic testing can be used to detect mutations in the CCDC114 gene and confirm a diagnosis. Genetic testing for PCD20 can help in providing an accurate diagnosis, understanding the underlying cause of the condition, and guiding appropriate treatment and management strategies. It can also provide valuable information for genetic counseling and family planning. It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and implications of genetic testing before undergoing the test. |