HOXA1 Gene Athabaskan brainstem dysgenesis syndrome Genetic Test
At DNA Labs UAE, we offer the HOXA1 Gene Athabaskan brainstem dysgenesis syndrome Genetic Test for AED 4400.0. This test helps diagnose Athabaskan brainstem dysgenesis syndrome (ABDS), a rare genetic disorder caused by mutations in the HOXA1 gene.
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
Before undergoing the HOXA1 Gene Athabaskan brainstem dysgenesis 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 ABDS.
Test Details
The HOXA1 gene plays a crucial role in the development of various tissues and organs, including the brainstem. Mutations in this gene can lead to Athabaskan brainstem dysgenesis syndrome, which is characterized by underdevelopment of the brainstem.
Individuals with ABDS may experience symptoms such as facial weakness or paralysis, hearing loss, difficulty swallowing, and problems with balance and coordination.
NGS genetic testing, also known as Next-Generation Sequencing, is a cutting-edge technology that allows for the simultaneous analysis of multiple genes. In the case of ABDS, NGS genetic testing can identify mutations in the HOXA1 gene, aiding in the diagnosis of the disorder.
This test can be performed using a small blood sample or other tissue samples. The sample is sent to our laboratory for analysis, and the results are typically available within a few weeks.
Genetic counseling is strongly recommended before and after the test to ensure individuals fully understand the implications of the results and can make informed decisions about their healthcare.
| Test Name | HOXA1 Gene Athabaskan brainstem dysgenesis 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 HOXA1 Gene Athabaskan brainstem dysgenesis syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HOXA1 Gene Athabaskan brainstem dysgenesis syndrome NGS Genetic DNA Test gene HOXA1 |
| Test Details |
The HOXA1 gene is a gene that provides instructions for making a protein involved in the development of various tissues and organs, including the brainstem. Mutations in this gene can cause a rare genetic disorder called Athabaskan brainstem dysgenesis syndrome (ABDS). ABDS is characterized by the underdevelopment of the brainstem, which is the part of the brain that connects to the spinal cord and controls basic functions such as breathing, heart rate, and swallowing. People with ABDS may have a range of symptoms, including facial weakness or paralysis, hearing loss, difficulty swallowing, and problems with balance and coordination. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of ABDS, NGS genetic testing can be used to identify mutations in the HOXA1 gene that may be causing the disorder. This test can help confirm a diagnosis of ABDS and provide information about the specific genetic mutation involved. NGS genetic testing can be done using a small blood sample or other tissue samples. The sample is analyzed in a laboratory, and the results are usually available within a few weeks. Genetic counseling is often recommended before and after genetic testing to help individuals understand the implications of the test results and make informed decisions about their healthcare. |
