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RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant Genetic Test

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

-21%

The “RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant Genetic Test” is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the RRM2B gene. These mutations are associated with a form of progressive external ophthalmoplegia (PEO), a condition characterized by weakness of the eye muscles and, in some cases, other muscles in the body. This particular type of PEO, known as Type 5, is autosomal dominant, meaning that only one copy of the mutated gene inherited from a parent is sufficient to cause the condition. This test plays a crucial role in the accurate diagnosis and understanding of the genetic basis of the disease, which can significantly impact treatment decisions and family planning. The cost of the test is 4400 AED, reflecting the specialized nature of the genetic analysis and the expertise required to interpret the results. Conducted at DNA Labs UAE, this test is a vital resource for individuals and families affected by this rare genetic condition, offering insights into the genetic underpinnings and aiding in the management of the disease.

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RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant Genetic Test

Welcome to the DNA Labs UAE blog! In this article, we will discuss the RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant Genetic Test.

Test Name

RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant Genetic Test

Components

The test includes:

  • NGS Technology

Price

The cost of the test is 4400.0 AED.

Sample Condition

The test can be performed using blood, extracted DNA, or one drop of blood on an FTA Card.

Report Delivery

The test results will be delivered within 3 to 4 weeks.

Method

The test utilizes NGS (Next-Generation Sequencing) technology.

Test Type

The test is specifically designed for neurological disorders.

Doctor

The test is recommended to be conducted under the supervision of a neurologist.

Test Department

The test is conducted in the Genetics department of DNA Labs UAE.

Pre Test Information

Before undergoing the RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with the condition.

Test Details

The RRM2B gene is associated with a condition called progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant. This condition is characterized by weakness and paralysis of the muscles that control eye movement (ophthalmoplegia), as well as other symptoms related to mitochondrial dysfunction.

NGS genetic testing is used to analyze multiple genes simultaneously. In the context of RRM2B gene testing, NGS can identify any mutations or deletions in the RRM2B gene that may be causing the condition. Genetic testing for RRM2B mutations can help confirm a diagnosis of progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant. It can also provide information about the specific mutation present, which can be useful for genetic counseling and determining the risk of passing on the condition to future generations.

If you are considering the NGS genetic test for RRM2B gene mutations, it is important to consult with a healthcare professional or a genetic counselor to discuss the specific details and implications of the test.

Test Name RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5 autosomal dominant 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 RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant
Test Details

The RRM2B gene is associated with a condition called progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant. This condition is characterized by weakness and paralysis of the muscles that control eye movement (ophthalmoplegia), as well as other symptoms related to mitochondrial dysfunction.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the context of RRM2B gene testing, NGS can be used to identify any mutations or deletions in the RRM2B gene that may be causing the condition.

Genetic testing for RRM2B mutations can help confirm a diagnosis of progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant. It can also provide information about the specific mutation present, which can be useful for genetic counseling and determining the risk of passing on the condition to future generations.

It is important to consult with a healthcare professional or a genetic counselor to discuss the specific details and implications of the NGS genetic test for RRM2B gene mutations.