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SLC6A5 Gene Hyperekplexia Genetic Test

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

-21%

The SLC6A5 gene hyperekplexia genetic test is a specialized diagnostic tool designed to identify mutations in the SLC6A5 gene, which are known to cause hyperekplexia. Hyperekplexia, also known as startle disease, is a rare genetic disorder characterized by an exaggerated startle response to sudden stimuli, stiffness, and, in severe cases, apnea and sudden infant death. The condition is primarily inherited in an autosomal dominant manner, though autosomal recessive inheritance has also been observed.

The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed to detect any genetic alterations in the SLC6A5 gene. Identifying these mutations can confirm a diagnosis of hyperekplexia, allowing for appropriate management and treatment of the condition. It can also provide valuable information for family planning and genetic counseling for affected families.

In the UAE, this specific genetic test is available at DNA Labs UAE, a leading facility in genetic testing and personalized medicine. The cost of the SLC6A5 gene hyperekplexia genetic test at DNA Labs UAE is set at 4400 AED. This test is crucial for individuals with a family history of hyperekplexia or those exhibiting symptoms of the disorder, providing them with a definitive diagnosis and guiding their treatment plans.

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  • This test is not intended for medical diagnosis or treatment
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SLC6A5 Gene Hyperekplexia Genetic Test

At DNA Labs UAE, we offer the SLC6A5 Gene Hyperekplexia Genetic Test. This test is designed to diagnose and understand the genetic disorder known as hyperekplexia, or startle disease.

Test Details

Hyperekplexia is a rare neurological condition characterized by an exaggerated startle response, muscle stiffness, and an increased risk of falling. The SLC6A5 gene is associated with this disorder.

Our SLC6A5 Gene Hyperekplexia Genetic Test utilizes NGS (Next-Generation Sequencing) technology. This advanced sequencing method allows us to analyze multiple genes simultaneously, providing a comprehensive assessment of genetic variants associated with hyperekplexia.

The test involves analyzing the entire coding region of the SLC6A5 gene. By identifying mutations or variations in this gene, we can confirm a diagnosis, understand the underlying genetic cause, and guide appropriate treatment and management strategies.

Test Components and Price

The SLC6A5 Gene Hyperekplexia Genetic Test is priced at 4400.0 AED. The test can be performed using a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery and Test Department

After the sample is collected, the report will be delivered within 3 to 4 weeks. The test is conducted in our Genetics department.

Referring Doctor and Test Type

This test is typically referred by a Neurologist, as it falls under the category of Neurological Disorders.

Pre Test Information

Before undergoing the SLC6A5 Gene Hyperekplexia Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected by SLC6A5 Gene Hyperekplexia.

Genetic Counseling

Genetic counseling is an integral part of the testing process. It helps individuals understand the implications of the test results and make informed decisions about their healthcare.

It is important to note that genetic testing for hyperekplexia is typically recommended for individuals who have symptoms consistent with the disorder, as well as their family members.

At DNA Labs UAE, we are dedicated to providing accurate and reliable genetic testing services. If you or your family members are experiencing symptoms of hyperekplexia, we encourage you to consult with a Neurologist and consider the SLC6A5 Gene Hyperekplexia Genetic Test.

Test Name SLC6A5 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 SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC6A5 Gene Hyperekplexia
Test Details

The SLC6A5 gene is associated with a genetic disorder called hyperekplexia, also known as startle disease. Hyperekplexia is a rare neurological condition characterized by an exaggerated startle response, muscle stiffness, and an increased risk of falling.

NGS (Next-Generation Sequencing) genetic testing refers to a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of hyperekplexia, NGS genetic testing can be used to identify mutations or variations in the SLC6A5 gene that may be responsible for the disorder.

By analyzing the entire coding region of the SLC6A5 gene, NGS testing can provide a comprehensive assessment of genetic variants associated with hyperekplexia. This can help in confirming a diagnosis, understanding the underlying genetic cause, and guiding appropriate treatment and management strategies for individuals with the condition.

It is important to note that genetic testing for hyperekplexia is typically recommended for individuals who have symptoms consistent with the disorder, as well as their family members. Genetic counseling is also an important part of the testing process, as it can help individuals understand the implications of the test results and make informed decisions about their healthcare.