APTX Gene Ataxia-oculomotor apraxia type 1 Genetic Test
Components: APTX Gene Ataxia-oculomotor apraxia type 1 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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for APTX Gene Ataxia-oculomotor apraxia type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with APTX Gene Ataxia-oculomotor apraxia type 1.
Test Details:
The APTX gene is associated with ataxia-oculomotor apraxia type 1 (AOA1), which is a rare genetic disorder that affects the nervous system. AOA1 is characterized by progressive difficulty with movement, including ataxia (uncoordinated movements), oculomotor apraxia (inability to control eye movements), and dystonia (involuntary muscle contractions).
NGS (Next-Generation Sequencing) is a genetic testing method that can analyze multiple genes simultaneously, providing a comprehensive analysis of the patient’s genetic makeup. A NGS genetic test for AOA1 would involve sequencing the APTX gene to identify any mutations or variations that could be responsible for the patient’s symptoms. This information can be used to diagnose AOA1 and guide treatment and management options.
It is important to note that genetic testing for AOA1 is typically only recommended for individuals who have symptoms of the condition or a family history of AOA1. Testing can also be useful for family planning and genetic counseling purposes.
Test Name | APTX Gene Ataxia-oculomotor apraxia type 1 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 APTX Gene Ataxia-oculomotor apraxia type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with APTX Gene Ataxia-oculomotor apraxia type 1 |
Test Details | The APTX gene is associated with ataxia-oculomotor apraxia type 1 (AOA1), which is a rare genetic disorder that affects the nervous system. AOA1 is characterized by progressive difficulty with movement, including ataxia (uncoordinated movements), oculomotor apraxia (inability to control eye movements), and dystonia (involuntary muscle contractions). NGS (Next-Generation Sequencing) is a genetic testing method that can analyze multiple genes simultaneously, providing a comprehensive analysis of the patient’s genetic makeup. A NGS genetic test for AOA1 would involve sequencing the APTX gene to identify any mutations or variations that could be responsible for the patient’s symptoms. This information can be used to diagnose AOA1 and guide treatment and management options. It is important to note that genetic testing for AOA1 is typically only recommended for individuals who have symptoms of the condition or a family history of AOA1. Testing can also be useful for family planning and genetic counseling purposes. |