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DES Gene Myopathy Myofibrillar Desmin Related Genetic Test Cost

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

-21%

The “DES Gene Myopathy Myofibrillar Desmin Related Genetic Test” is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at detecting mutations in the DES gene. These mutations are associated with a group of conditions known as desmin-related myopathies (DRM), which are characterized by the abnormal aggregation of desmin protein in muscle cells, leading to muscle weakness and atrophy. The test plays a crucial role in the accurate diagnosis and management of patients with symptoms suggestive of DRM, enabling healthcare professionals to tailor treatment plans effectively.

Performed using a blood sample, this genetic test focuses on analyzing the DES gene to identify any alterations that might contribute to the development of myofibrillar myopathies. It is particularly valuable for individuals presenting with muscle weakness, cardiac abnormalities, or family history of similar symptoms, offering insights into the genetic underpinnings of their condition.

DNA Labs UAE, a leading provider of genetic testing services in the region, offers this test at a cost of 4400 AED. The price reflects the sophisticated technology and expertise required to accurately detect and interpret DES gene mutations. By opting for this test at DNA Labs UAE, patients and their families can expect comprehensive support, from sample collection to result interpretation, aiding in the pursuit of a definitive diagnosis and informed approach to management and therapy.

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DES Gene Myopathy Myofibrillar Desmin Related Genetic Test

Are you or a loved one experiencing symptoms of myofibrillar myopathy? DNA Labs UAE offers the DES Gene Myopathy Myofibrillar Desmin Related Genetic Test to help diagnose and manage this rare genetic disorder. Read on to learn more about the test, its components, cost, and how it can benefit you.

Test Details

The DES Gene Myopathy Myofibrillar Desmin Related NGS Genetic Test is a type of genetic test that analyzes the DES gene for mutations or variations associated with myofibrillar myopathy. This disorder affects the muscles, causing weakness, muscle wasting, and other muscle-related symptoms.

The DES gene provides instructions for making the protein called desmin, which is crucial for maintaining the structure and function of muscle cells. Mutations or variations in the DES gene can disrupt the production or function of desmin, leading to the development of myofibrillar myopathy.

The NGS (Next-Generation Sequencing) technique used in this genetic test allows for the analysis of multiple genes simultaneously, including the DES gene. It can identify various types of genetic alterations, such as point mutations, deletions, insertions, or duplications, within the DES gene.

Test Components and Price

The DES Gene Myopathy Myofibrillar Desmin Related Genetic Test costs 4400.0 AED. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Test Method and Delivery

The DES Gene Myopathy Myofibrillar Desmin Related Genetic Test is performed using NGS technology. The test results are typically delivered within 3 to 4 weeks after sample submission.

Test Type and Doctor

This genetic test falls under the category of neurological disorders. It is usually ordered by a neurologist, who specializes in diagnosing and managing genetic disorders.

Test Department and Pre-Test Information

The DES Gene Myopathy Myofibrillar Desmin Related Genetic Test is conducted in the Genetics department. Before undergoing the test, it is essential to provide the clinical history of the patient who is going for the test. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by DES Gene Myopathy, Myofibrillar, Desmin related.

Importance of the Test

The DES Gene Myopathy Myofibrillar Desmin Related Genetic Test can help confirm a diagnosis of myofibrillar myopathy and provide crucial information for genetic counseling and management of the condition. It can also identify individuals who may be at risk of developing the disorder, allowing for early intervention and monitoring.

Interpreting the Test Results

It is important to note that the DES Gene Myopathy Myofibrillar Desmin Related Genetic Test should be interpreted by a healthcare professional, such as a geneticist or a neurologist, who specializes in the diagnosis and management of genetic disorders. The results should be considered alongside the individual’s clinical symptoms and family history to make an accurate diagnosis.

Don’t delay in getting the DES Gene Myopathy Myofibrillar Desmin Related Genetic Test if you suspect myofibrillar myopathy. Contact DNA Labs UAE today for more information and to schedule your test.

Test Name DES Gene Myopathy myofibrillar Desmin 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 DES Gene Myopathy, myofibrillar, Desmin related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DES Gene Myopathy, myofibrillar, Desmin related
Test Details

DES gene myopathy, myofibrillar, Desmin related NGS genetic test is a type of genetic test that analyzes the DES gene for mutations or variations that are associated with myofibrillar myopathy. Myofibrillar myopathy is a rare genetic disorder that affects the muscles, causing weakness, muscle wasting, and other muscle-related symptoms.

The DES gene provides instructions for making the protein called desmin, which is important for maintaining the structure and function of muscle cells. Mutations or variations in the DES gene can disrupt the production or function of desmin, leading to the development of myofibrillar myopathy.

The NGS (Next-Generation Sequencing) technique used in this genetic test allows for the analysis of multiple genes simultaneously, including the DES gene. It can identify various types of genetic alterations, such as point mutations, deletions, insertions, or duplications, within the DES gene.

By identifying specific genetic changes in the DES gene, this test can help confirm a diagnosis of myofibrillar myopathy and provide important information for genetic counseling and management of the condition. It can also be used to identify individuals who may be at risk of developing the disorder, allowing for early intervention and monitoring.

It is important to note that this genetic test is typically ordered by a healthcare professional, such as a geneticist or a neurologist, who specializes in the diagnosis and management of genetic disorders. The results of the test should be interpreted in the context of the individual’s clinical symptoms and family history to make an accurate diagnosis.

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