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GLRA1 Gene Hyperekplexia Genetic Test

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

-21%

The GLRA1 Gene Hyperekplexia Genetic Test is a specialized diagnostic tool designed to identify mutations in the GLRA1 gene, which are linked to hyperekplexia, a rare genetic disorder. Hyperekplexia, also known as startle disease, is characterized by an exaggerated startle response to unexpected stimuli. This condition can vary in severity, from mild startles to severe stiffness and falls, and in some cases, it can lead to serious health complications, especially in infants.

The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for any genetic abnormalities in the GLRA1 gene. Identifying mutations in this gene can confirm a diagnosis of hyperekplexia, enabling healthcare providers to offer appropriate treatment and management strategies for the condition.

This specific genetic test is available at DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The cost of the GLRA1 Gene Hyperekplexia Genetic Test at DNA Labs UAE is 4400 AED. Given the complexity and the specialized nature of this test, it represents a critical step towards personalized medicine for patients exhibiting symptoms of hypereklexia, providing them with a clear diagnosis and paving the way for targeted interventions.

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GLRA1 Gene Hyperekplexia Genetic Test

At DNA Labs UAE, we offer the GLRA1 Gene Hyperekplexia Genetic Test for individuals suspected of having this rare genetic disorder. Hyperekplexia, also known as startle disease, is a neurological disorder characterized by an exaggerated startle reflex, muscle stiffness, and temporary paralysis following a startling stimulus.

Test Components and Price

The GLRA1 Gene Hyperekplexia Genetic Test is priced at 4400.0 AED. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery and Method

After the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes NGS (Next-Generation Sequencing) technology to analyze the GLRA1 gene for mutations or variations.

Test Type and Doctor

The GLRA1 Gene Hyperekplexia Genetic Test falls under the category of Neurological Disorders. It is recommended to consult with a Neurologist for this test.

Test Department and Pre Test Information

The GLRA1 Gene Hyperekplexia Genetic Test is conducted in the Genetics department. Before the test, it is important to provide the clinical history of the patient and undergo a Genetic Counselling session to draw a pedigree chart of family members affected with GLRA1 Gene Hyperekplexia.

Test Details

The GLRA1 gene is associated with the rare genetic disorder hyperekplexia. It codes for the alpha-1 subunit of the glycine receptor in the brain and spinal cord. NGS genetic testing allows for the analysis of multiple genes simultaneously, providing a comprehensive evaluation of genetic variations associated with hyperekplexia.

NGS genetic testing for GLRA1 gene mutations can help diagnose hyperekplexia and identify the specific genetic variant causing the condition. This information is crucial for genetic counseling and determining the risk of passing the disorder on to future generations.

It is important to note that genetic testing should be performed by a qualified healthcare professional, such as a geneticist or genetic counselor, who can interpret the results and provide appropriate recommendations and support.

Test Name GLRA1 Gene Hyperekplexia 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 GLRA1 Gene Hyperekplexia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GLRA1 Gene Hyperekplexia
Test Details

The GLRA1 gene is associated with a rare genetic disorder called hyperekplexia, also known as startle disease. Hyperekplexia is a neurological disorder characterized by an exaggerated startle reflex, muscle stiffness, and temporary paralysis following a startling stimulus. It is typically caused by mutations in the GLRA1 gene, which codes for the alpha-1 subunit of the glycine receptor in the brain and spinal cord.

NGS (Next-Generation Sequencing) genetic testing can be used to analyze the GLRA1 gene for mutations or variations. This type of testing allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of genetic variations associated with hyperekplexia.

NGS genetic testing for GLRA1 gene mutations can help diagnose hyperekplexia and identify the specific genetic variant causing the condition. This information is crucial for genetic counseling, as it can help determine the risk of passing the disorder on to future generations.

It is important to note that genetic testing should be performed by a qualified healthcare professional, such as a geneticist or genetic counselor, who can interpret the results and provide appropriate recommendations and support.