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POMK Gene Muscle-Eye-Brain Disease POMK Related Genetic Test Cost

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

-21%

The POMK gene is associated with a rare genetic disorder known as Muscle-Eye-Brain Disease (MEB), which is characterized by muscle weakness, structural eye defects, and brain abnormalities. Mutations in the POMK gene disrupt the normal development of these organs, leading to the symptoms observed in individuals with MEB. The POMK-related genetic test is a specialized diagnostic tool designed to identify mutations in the POMK gene, providing crucial information for the diagnosis and management of Muscle-Eye-Brain Disease.

Performed at DNA Labs UAE, the test involves collecting a DNA sample from the patient, usually through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of mutations in the POMK gene. This genetic testing is vital for confirming the diagnosis of MEB, understanding the risk of passing the condition to future generations, and guiding treatment and management decisions.

The cost of the POMK-related genetic test at DNA Labs UAE is 4400 AED. This cost covers the full process of the genetic analysis, from sample collection to the provision of a detailed report explaining the test results. It’s important for patients to consult with their healthcare provider to understand the implications of the test results and the best course of action following diagnosis.

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POMK Gene Muscle-eye-brain Disease | Genetic Test

Test Name: POMK Gene Muscle-eye-brain disease POMK related Genetic Test

Test Components: POMK gene analysis

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 POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POMK Gene Muscle-eye-brain disease, POMK related.

What is Muscle-eye-brain Disease (MEB)?

Muscle-eye-brain disease (MEB) is a rare genetic disorder that affects the muscles, eyes, and brain. It is characterized by muscle weakness, vision problems, and developmental delay.

The POMK Gene and MEB

The POMK gene is one of the genes associated with MEB. Mutations in the POMK gene can lead to a deficiency or dysfunction of the protein called protein O-mannose kinase, which is important for the proper development and function of muscles, eyes, and the brain.

About POMK Related NGS Genetic Testing

POMK related NGS genetic testing is a type of genetic test that uses next-generation sequencing (NGS) technology to analyze the POMK gene for any mutations or variations. This test helps in diagnosing MEB and identifying individuals who may be at risk of developing the condition.

NGS technology allows for the simultaneous analysis of multiple genes, providing a comprehensive view of the genetic variations associated with MEB. It is a more efficient and cost-effective method compared to traditional genetic testing techniques.

How is the Test Performed?

POMK related NGS genetic testing is typically performed on a blood or saliva sample. The sample is sent to a specialized laboratory where the DNA is extracted and analyzed using NGS technology. The results are then interpreted by geneticists or genetic counselors who can provide a diagnosis or further guidance based on the findings.

Benefits of Genetic Testing for MEB

Genetic testing can be beneficial for individuals with suspected MEB, as it can provide a definitive diagnosis, guide treatment decisions, and inform family planning. It can also help in understanding the inheritance pattern of the condition and identifying other family members who may be at risk.

It is important to note that genetic testing should be done under the guidance of a healthcare professional, such as a geneticist or genetic counselor, who can provide appropriate counseling and support throughout the testing process.

Test Name POMK Gene Muscle-eye-brain disease POMK related 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 POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMK Gene Muscle-eye-brain disease, POMK related
Test Details

Muscle-eye-brain disease (MEB) is a rare genetic disorder that affects the muscles, eyes, and brain. It is characterized by muscle weakness, vision problems, and developmental delay.

The POMK gene is one of the genes associated with MEB. Mutations in the POMK gene can lead to a deficiency or dysfunction of the protein called protein O-mannose kinase, which is important for the proper development and function of muscles, eyes, and the brain.

POMK related NGS genetic testing is a type of genetic test that uses next-generation sequencing (NGS) technology to analyze the POMK gene for any mutations or variations. This test helps in diagnosing MEB and identifying individuals who may be at risk of developing the condition.

NGS technology allows for the simultaneous analysis of multiple genes, providing a comprehensive view of the genetic variations associated with MEB. It is a more efficient and cost-effective method compared to traditional genetic testing techniques.

POMK related NGS genetic testing is typically performed on a blood or saliva sample. The sample is sent to a specialized laboratory where the DNA is extracted and analyzed using NGS technology. The results are then interpreted by geneticists or genetic counselors who can provide a diagnosis or further guidance based on the findings.

Genetic testing can be beneficial for individuals with suspected MEB, as it can provide a definitive diagnosis, guide treatment decisions, and inform family planning. It can also help in understanding the inheritance pattern of the condition and identifying other family members who may be at risk.

It is important to note that genetic testing should be done under the guidance of a healthcare professional, such as a geneticist or genetic counselor, who can provide appropriate counseling and support throughout the testing process.

SKU: TEST-1745 Category:

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