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SLC13A5 Gene Early infantile epileptic encephalopathy type 25 Genetic Test

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

-21%

The SLC13A5 gene plays a crucial role in the human body, particularly in the transport of citrate across cell membranes. Mutations in this gene can lead to a rare neurological condition known as Early Infantile Epileptic Encephalopathy Type 25 (EIEE25). This condition is characterized by frequent seizures that begin in the first days of life, developmental delay, and other neurological issues. Given the severity and rarity of EIEE25, accurate diagnosis is critical for managing the condition and providing appropriate care and support to affected individuals and their families.

DNA Labs UAE offers a genetic test specifically designed to identify mutations in the SLC13A5 gene, which is pivotal for diagnosing EIEE25. This test involves analyzing the patient’s DNA to look for abnormalities in the SLC13A5 gene that are known to cause the condition. The cost of the test is 4400 AED, a price that reflects the specialized nature of the analysis and the profound impact that a precise diagnosis can have on treatment plans and quality of life for affected individuals.

Opting for this test at DNA Labs UAE provides patients and healthcare providers with crucial information that can lead to a better understanding of the condition, enabling tailored treatment approaches, and offering insights into potential genetic counseling for families. The lab’s expertise in genetic diagnostics ensures a high level of accuracy and reliability in the test results, making it a valuable resource for those dealing with the challenges of EIEE25.

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SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 Genetic Test

Cost: AED 4400.0

Test Components:

  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

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 SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25

Test Details:

The SLC13A5 gene is associated with a rare genetic disorder called Early Infantile Epileptic Encephalopathy type 25 (EIEE25). This disorder is characterized by seizures that begin in the first few months of life and developmental delays.

The SLC13A5 gene provides instructions for making a protein that is involved in the transport of ions (charged particles) across cell membranes. Mutations in this gene can disrupt the normal function of this protein, leading to abnormal brain activity and seizures.

NGS (Next Generation Sequencing) genetic testing is a type of DNA testing that can analyze multiple genes at once, quickly and accurately. This type of testing can be used to identify mutations in the SLC13A5 gene that may be causing EIEE25.

NGS testing can be helpful for diagnosing this disorder and guiding treatment decisions. If a mutation is identified through NGS testing, genetic counseling may be recommended to discuss the implications for the individual and their family members.

Treatment for EIEE25 may include anti-seizure medications, physical and occupational therapy, and supportive care for developmental delays.

Test Name SLC13A5 Gene Early infantile epileptic encephalopathy type 25 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 SLC13A5 Gene Early infantile epileptic encephalopathy type 25 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC13A5 Gene Early infantile epileptic encephalopathy type 25
Test Details

The SLC13A5 gene is associated with a rare genetic disorder called Early Infantile Epileptic Encephalopathy type 25 (EIEE25). This disorder is characterized by seizures that begin in the first few months of life and developmental delays. The SLC13A5 gene provides instructions for making a protein that is involved in the transport of ions (charged particles) across cell membranes. Mutations in this gene can disrupt the normal function of this protein, leading to abnormal brain activity and seizures.

NGS (Next Generation Sequencing) genetic testing is a type of DNA testing that can analyze multiple genes at once, quickly and accurately. This type of testing can be used to identify mutations in the SLC13A5 gene that may be causing EIEE25. NGS testing can be helpful for diagnosing this disorder and guiding treatment decisions.

If a mutation is identified through NGS testing, genetic counseling may be recommended to discuss the implications for the individual and their family members. Treatment for EIEE25 may include anti-seizure medications, physical and occupational therapy, and supportive care for developmental delays.