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SLC6A8 Gene Creatine Deficiency Syndrome X-Linked Genetic Test

4,400 د.إ

-21%

The SLC6A8 gene creatine deficiency syndrome, also known as X-linked creatine transporter defect, is a genetic disorder that affects creatine transport into cells. This condition is significant because creatine plays a crucial role in energy storage and supply within cells, especially in the brain and muscles. Individuals with this syndrome may experience developmental delay, intellectual disabilities, speech and language impairments, and behavioral problems due to the lack of adequate creatine in certain cells.

To diagnose this condition, a specific genetic test is available that targets the SLC6A8 gene. This test can confirm the presence of mutations in the SLC6A8 gene that are responsible for the disorder. It is particularly useful for individuals showing symptoms of the disorder or for families with a history of the condition who are considering having children.

In the UAE, this genetic test is offered by DNA Labs UAE, a reputable facility known for its comprehensive range of genetic testing services. The cost of the SLC6A8 Gene Creatine Deficiency Syndrome X-Linked Genetic Test at DNA Labs UAE is 4400 AED. The test provides a crucial diagnostic tool for affected individuals and their families, enabling them to understand their condition better and to seek appropriate treatment and management strategies.

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SLC6A8 Gene Creatine Deficiency Syndrome X-linked Genetic Test

Welcome to DNA Labs UAE, a genetic lab specializing in advanced genetic testing. Today, we will be discussing the SLC6A8 Gene Creatine Deficiency Syndrome X-linked Genetic Test.

Test Details

The SLC6A8 gene is responsible for encoding the creatine transporter protein, which plays a crucial role in transporting creatine into the brain and muscles. Mutations in this gene can lead to creatine deficiency syndrome X-linked (CDSX), a rare genetic disorder.

CDSX is characterized by intellectual disability, speech and language delay, seizures, and behavioral problems. To accurately diagnose CDSX, we offer NGS (Next-generation sequencing) genetic testing, which utilizes advanced sequencing technologies to analyze multiple genes simultaneously.

Our NGS genetic testing can detect mutations in the SLC6A8 gene and other genes associated with CDSX. This comprehensive approach allows us to provide valuable information about the specific genetic mutation causing the disorder.

Test Components and Price

The cost of the SLC6A8 Gene Creatine Deficiency Syndrome X-linked Genetic Test is AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery and Test Method

After the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes NGS technology to ensure accurate and reliable results.

Test Type and Doctor

The SLC6A8 Gene Creatine Deficiency Syndrome X-linked Genetic Test falls under the category of Neurological Disorders. It is recommended to consult with a Neurologist for this specific test.

Test Department and Pre-Test Information

The test is conducted in our Genetics department. Before undergoing the SLC6A8 Gene Creatine Deficiency Syndrome X-linked NGS Genetic DNA Test, it is essential 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 SLC6A8 Gene Creatine Deficiency Syndrome X-linked.

Benefits of Early Diagnosis and Treatment

Early diagnosis and treatment are crucial for individuals with CDSX. With the information obtained from NGS genetic testing, genetic counseling can be provided to affected individuals and their families. This knowledge can aid in family planning and guide treatment options for better outcomes.

At DNA Labs UAE, we strive to provide accurate and comprehensive genetic testing services. Our SLC6A8 Gene Creatine Deficiency Syndrome X-linked Genetic Test can play a significant role in the diagnosis and management of CDSX.

Test Name SLC6A8 Gene Creatine deficiency syndrome X-linked 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 SLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC6A8 Gene Creatine deficiency syndrome X-linked
Test Details

SLC6A8 gene is responsible for encoding the creatine transporter protein, which is responsible for transporting creatine into the brain and muscles. Mutations in this gene lead to creatine deficiency syndrome X-linked (CDSX), which is a rare genetic disorder characterized by intellectual disability, speech and language delay, seizures, and behavioral problems.

NGS (Next-generation sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. It allows for the detection of mutations in the SLC6A8 gene and other genes associated with CDSX.

NGS genetic testing can help diagnose CDSX and provide information about the specific genetic mutation causing the disorder. This information can be used for genetic counseling, family planning, and to guide treatment options. Early diagnosis and treatment can improve outcomes for individuals with CDSX.