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PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test

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

-21%

The PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the PNKP gene, which are associated with Ataxia-Oculomotor Apraxia Type 4 (AOA4). AOA4 is a rare neurological disorder characterized by a combination of ataxia, which affects coordination and balance, and oculomotor apraxia, which impairs eye movements. This condition may also present other neurological symptoms, making early and accurate diagnosis crucial for managing the disease.

The test involves analyzing the patient’s DNA to detect specific genetic alterations in the PNKP gene, which plays a crucial role in DNA repair processes. Identifying mutations in this gene can confirm a diagnosis of AOA4, allowing for targeted treatment plans and genetic counseling for affected individuals and their families.

The cost of the PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis necessary to detect the genetic markers indicative of AOA4, providing essential information for disease management and familial planning.

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