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ARHGEF9 Gene Hyperekplexia EIEE8 Related Genetic Test

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

-21%

The ARHGEF9 gene is associated with a range of neurological disorders, including hyperekplexia and Early Infantile Epileptic Encephalopathy 8 (EIEE8). Hyperekplexia is characterized by an exaggerated startle response to unexpected stimuli, while EIEE8 is a severe form of epilepsy that presents in infancy, often leading to developmental delays and intellectual disability. Mutations in the ARHGEF9 gene disrupt the normal functioning of inhibitory synapses in the brain, leading to these conditions.

To diagnose and understand these conditions better, genetic testing targeting the ARHGEF9 gene can be conducted. DNA Labs UAE offers a comprehensive ARHGEF9 Gene Hyperekplexia EIEE8 Related Genetic Test. This test is designed to identify mutations in the ARHGEF9 gene that are known to cause hyperekplexia and EIEE8, providing essential information for accurate diagnosis and management of the conditions.

The cost of the ARHGEF9 Gene Hyperekplexia EIEE8 Related Genetic Test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of mutations in the ARHGEF9 gene. Results from this test can guide healthcare providers in developing a tailored treatment plan for affected individuals and offer families important insights into the genetic nature of these conditions.

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ARHGEF9 Gene Hyperekplexia EIEE8 related Genetic Test

Test Details

The ARHGEF9 gene is associated with two different genetic disorders: Hyperekplexia and Early Infantile Epileptic Encephalopathy 8 (EIEE8). Hyperekplexia, also known as startle disease, is a rare neurological disorder characterized by an exaggerated startle response to unexpected stimuli. This can cause muscle stiffness, falls, and in severe cases, even life-threatening events. Mutations in the ARHGEF9 gene have been identified as a cause of hyperekplexia. EIEE8 is a type of early onset epilepsy that typically presents in the first few months of life. It is characterized by seizures, developmental delay, and intellectual disability. Mutations in the ARHGEF9 gene have also been associated with this disorder.

Test Components and Price

  • Test Name: ARHGEF9 Gene Hyperekplexia EIEE8 related Genetic Test
  • 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 (Next-Generation Sequencing)

Test Type

Neurological Disorders

Doctor

Neurologist

Test Department

Genetics

Pre Test Information

Clinical History of Patient who is going for ARHGEF9 Gene Hyperekplexia, EIEE8 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ARHGEF9 Gene Hyperekplexia, EIEE8 related.

Test Procedure

The NGS genetic test for ARHGEF9 gene-related disorders involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any mutations or variants in the ARHGEF9 gene.

Importance of Genetic Testing

The results of the test can help in confirming a diagnosis, providing information about disease prognosis, and guiding treatment options. It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.

Test Name ARHGEF9 Gene Hyperekplexia EIEE8 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 ARHGEF9 Gene Hyperekplexia, EIEE8 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ARHGEF9 Gene Hyperekplexia, EIEE8 related
Test Details

The ARHGEF9 gene is associated with two different genetic disorders: Hyperekplexia and Early Infantile Epileptic Encephalopathy 8 (EIEE8).

Hyperekplexia, also known as startle disease, is a rare neurological disorder characterized by an exaggerated startle response to unexpected stimuli. This can cause muscle stiffness, falls, and in severe cases, even life-threatening events. Mutations in the ARHGEF9 gene have been identified as a cause of hyperekplexia.

EIEE8 is a type of early onset epilepsy that typically presents in the first few months of life. It is characterized by seizures, developmental delay, and intellectual disability. Mutations in the ARHGEF9 gene have also been associated with this disorder.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technology to analyze multiple genes simultaneously. In the case of ARHGEF9 gene-related disorders, NGS testing can be used to identify mutations or variants in the ARHGEF9 gene that may be causing hyperekplexia or EIEE8.

The NGS genetic test for ARHGEF9 gene-related disorders involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any mutations or variants in the ARHGEF9 gene. The results of the test can help in confirming a diagnosis, providing information about disease prognosis, and guiding treatment options.

It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.