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APTX Gene Ataxia-Oculomotor Apraxia Type 1 Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The APTX gene ataxia-oculomotor apraxia type 1 genetic test is a specialized diagnostic procedure designed to identify mutations in the APTX gene, which are associated with ataxia-oculomotor apraxia type 1 (AOA1). AOA1 is a rare, autosomal recessive disorder characterized by cerebellar ataxia, oculomotor apraxia, neuropathy, and in some cases, cognitive impairment. The condition typically manifests in childhood or early adolescence and progresses gradually.

This genetic test is crucial for confirming the diagnosis of AOA1, enabling affected individuals to receive appropriate management and support. It involves analyzing the patient’s DNA, extracted from a blood sample, to look for specific mutations in the APTX gene that are known to cause the disorder.

The test is available at DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates. The cost of the APTX gene ataxia-oculomotor apraxia type 1 genetic test is 4400 AED. This price may include the cost of the sample collection, genetic analysis, and the provision of a detailed report explaining the results. Patients considering this test are advised to discuss it with their healthcare provider to understand its benefits and limitations in the context of their individual health condition and family history.

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  • This test is not intended for medical diagnosis or treatment
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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.