PNKP Gene Ataxia-oculomotor apraxia type 4 Genetic Test
At DNA Labs UAE, we offer the PNKP Gene Ataxia-oculomotor apraxia type 4 Genetic Test. This test is designed to diagnose and analyze the PNKP gene, which is associated with Ataxia-oculomotor apraxia type 4 (AOA4), a rare autosomal recessive neurological disorder.
Test Details
AOA4 is characterized by progressive cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. Symptoms typically start in childhood and worsen over time. Our PNKP Gene Ataxia-oculomotor apraxia type 4 Genetic Test uses NGS (Next-Generation Sequencing) technology to analyze multiple genes simultaneously, including the PNKP gene.
Components and Price
The cost of the PNKP Gene Ataxia-oculomotor apraxia type 4 Genetic Test is 4400.0 AED. The test can be performed using a blood sample, extracted DNA, or one drop of blood on an FTA card. The results will be delivered within 3 to 4 weeks.
Test Type and Doctor
This test falls under the category of Neurological Disorders and is conducted by our team of experienced Neurologists. Our Genetics department handles the testing process.
Pre Test Information
Prior to the test, it is important to provide the clinical history of the patient who is undergoing the PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected by PNKP Gene Ataxia-oculomotor apraxia type 4.
Benefits of the Test
The PNKP Gene Ataxia-oculomotor apraxia type 4 Genetic Test can aid in accurate diagnosis, prognosis, and genetic counseling. It provides valuable information for healthcare professionals to manage symptoms and provide appropriate care. However, it is important to note that this test is not a cure for AOA4.
Conclusion
If you or a family member have a suspected or confirmed diagnosis of AOA4, the PNKP Gene Ataxia-oculomotor apraxia type 4 Genetic Test can be beneficial. Our NGS technology allows for comprehensive analysis of the PNKP gene and can provide valuable insights for managing the condition. Contact our DNA Labs UAE for more information or to schedule an appointment.
Test Name | PNKP Gene Ataxia-oculomotor apraxia type 4 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 PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PNKP Gene Ataxia-oculomotor apraxia type 4 |
Test Details |
The PNKP gene is associated with Ataxia-oculomotor apraxia type 4 (AOA4), a rare autosomal recessive neurological disorder. AOA4 is characterized by progressive cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. Symptoms usually begin in childhood and worsen over time. NGS (Next-Generation Sequencing) genetic testing is a type of DNA sequencing that allows for the analysis of multiple genes simultaneously. This test can identify mutations or changes in the PNKP gene that are associated with AOA4. NGS testing can be useful for individuals with a suspected or confirmed diagnosis of AOA4, as well as their family members who may be at risk of inheriting the condition. The test can help with accurate diagnosis, prognosis, and genetic counseling. It is important to note that NGS testing is not a cure for AOA4, but can provide valuable information for healthcare professionals to manage the symptoms and provide appropriate care. |