RSPH4A Gene Primary ciliary dyskinesia type 11 Genetic Test
At DNA Labs UAE, we offer the RSPH4A Gene Primary ciliary dyskinesia type 11 Genetic Test to diagnose and manage this rare genetic disorder. This test is crucial in identifying potential disease-causing mutations in the RSPH4A gene, which is associated with primary ciliary dyskinesia type 11.
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: Ear Nose Throat Disorders
- Doctor: ENT Doctor
- Test Department: Genetics
Pre Test Information
Prior to undergoing the RSPH4A Gene Primary ciliary dyskinesia type 11 Genetic Test, it is important to provide the clinical history of the patient. In addition, a genetic counseling session is recommended to draw a pedigree chart of family members affected with GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test gene GJB16.
Test Details
The RSPH4A gene is associated with primary ciliary dyskinesia type 11, a rare genetic disorder that affects the function of cilia. Cilia are hair-like structures that line various organs, including the respiratory tract and reproductive system. Mutations in the RSPH4A gene disrupt the assembly and function of cilia, resulting in abnormal ciliary movement.
Individuals with PCD type 11 may experience symptoms such as chronic respiratory infections, sinusitis, bronchiectasis, and fertility issues. To confirm a diagnosis, NGS genetic testing is used to detect mutations in the RSPH4A gene. This type of testing analyzes multiple genes simultaneously and requires a DNA sample, typically obtained through a blood or saliva sample.
At DNA Labs UAE, we utilize NGS technology to analyze the DNA sample and provide accurate results within 3 to 4 weeks. The results of the test help healthcare professionals diagnose PCD type 11 and develop appropriate management and treatment plans for affected individuals.
| Test Name | RSPH4A Gene Primary ciliary dyskinesia type 11 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 | Ear Nose Throat Disorders |
| Doctor | ENT Doctor |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test gene GJB16 |
| Test Details | The RSPH4A gene is associated with a genetic condition called primary ciliary dyskinesia type 11. Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the function of cilia, which are tiny hair-like structures that line the respiratory tract, reproductive system, and other organs. PCD type 11 is caused by mutations in the RSPH4A gene, which is involved in the assembly and function of cilia. These mutations result in abnormal ciliary movement and can lead to a range of symptoms, including chronic respiratory infections, sinusitis, bronchiectasis, and fertility issues. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify potential disease-causing mutations. In the context of PCD type 11, NGS genetic testing can be used to detect mutations in the RSPH4A gene and confirm a diagnosis. This type of genetic testing typically involves obtaining a DNA sample, often through a blood or saliva sample, and analyzing it using NGS technology. The results of the test can help healthcare professionals diagnose PCD type 11 and provide appropriate management and treatment options for affected individuals. |
