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SLC6A9 Gene Glycine encephalopathy with normal serum glycine Genetic Test Cost

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

-21%

The SLC6A9 gene is associated with glycine encephalopathy, a rare genetic disorder characterized by elevated levels of glycine in the brain but normal levels in the serum. This condition, also known as nonketotic hyperglycinemia, affects the central nervous system, leading to severe neurological symptoms. The SLC6A9 gene plays a crucial role in the glycine cleavage system, which is essential for the breakdown and regulation of glycine levels in the body. Mutations in this gene can disrupt this process, resulting in the accumulation of glycine in the brain and causing symptoms associated with glycine encephalopathy.

To diagnose this condition, genetic testing of the SLC6A9 gene can be conducted. DNA Labs UAE offers a specific genetic test for glycine encephalopathy with normal serum glycine, focusing on identifying mutations in the SLC6A9 gene. This test is vital for confirming the diagnosis, understanding the disease’s progression, and guiding treatment options.

The cost of the SLC6A9 gene glycine encephalopathy genetic test at DNA Labs UAE is 4400 AED. This comprehensive test is conducted in a state-of-the-art facility, ensuring accurate and reliable results. By identifying the specific genetic mutations associated with the condition, this test plays a crucial role in the management and treatment of patients with glycine encephalopathy, offering hope for affected individuals and their families.

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SLC6A9 Gene Glycine Encephalopathy with Normal Serum Glycine Genetic Test

Are you looking for information on SLC6A9 Gene Glycine Encephalopathy with Normal Serum Glycine Genetic Test? In this blog, we will discuss the symptoms, diagnosis, and cost of this genetic test offered by DNA Labs UAE.

Test Details

The SLC6A9 gene encodes for the glycine transporter 1 (GlyT1) protein. Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is a rare genetic disorder characterized by the buildup of glycine in the brain and other tissues. While this condition is usually caused by mutations in the GLDC gene, mutations in the SLC6A9 gene can also lead to glycine encephalopathy with normal serum glycine.

Glycine encephalopathy is a complex disorder, and the genetic causes can vary among individuals. Therefore, a comprehensive genetic test, such as the one offered by DNA Labs UAE, is necessary to identify the underlying genetic cause in some cases. This test utilizes next-generation sequencing (NGS) technology to analyze the DNA sequence of the SLC6A9 gene and identify any mutations or genetic variants that may be causing the disorder.

Test Components and Price

The SLC6A9 Gene Glycine Encephalopathy with Normal Serum Glycine Genetic Test is priced at AED 4400.0. The test can be conducted using a blood sample, extracted DNA, or even one drop of blood on an FTA card.

Report Delivery and Test Method

The test report will be delivered within 3 to 4 weeks. The method used for this genetic test is NGS technology, which ensures accurate and comprehensive analysis of the SLC6A9 gene.

Test Type and Doctor

This test falls under the category of metabolic disorders. It is recommended to consult with a general physician or geneticist to discuss the symptoms and determine the need for this specific genetic test.

Test Department and Pre-Test Information

The SLC6A9 Gene Glycine Encephalopathy with Normal Serum Glycine Genetic Test is offered by the Genetics department at DNA Labs UAE. Before undergoing this test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Glycine encephalopathy with normal serum glycine.

Conclusion

Glycine encephalopathy with normal serum glycine is a rare genetic disorder that can be caused by mutations in the SLC6A9 gene. To diagnose this condition, a next-generation sequencing genetic test is recommended. DNA Labs UAE offers a comprehensive and accurate test that can help confirm the diagnosis and guide treatment decisions. For more information and guidance regarding genetic testing options, it is advisable to consult with a genetic counselor or healthcare professional.

Test Name SLC6A9 Gene Glycine encephalopathy with normal serum glycine Genetic Test
Components
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
Test type Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycine encephalopathy with normal serum glycine
Test Details

SLC6A9 is a gene that encodes for the glycine transporter 1 (GlyT1) protein. Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is a rare genetic disorder characterized by the buildup of glycine in the brain and other tissues. This condition is usually caused by mutations in the GLDC gene, which encodes for the glycine decarboxylase enzyme.

However, in some cases, glycine encephalopathy can be caused by mutations in other genes, including SLC6A9. These mutations disrupt the normal function of the GlyT1 protein, leading to impaired glycine transport across cell membranes. This results in the accumulation of glycine in the brain, leading to neurological symptoms.

To diagnose glycine encephalopathy with normal serum glycine, a next-generation sequencing (NGS) genetic test can be performed. This test analyzes the DNA sequence of the SLC6A9 gene to identify any mutations or genetic variants that may be causing the disorder. It can help confirm the diagnosis and guide treatment decisions.

It is important to note that glycine encephalopathy is a complex disorder, and the genetic causes can vary among individuals. Therefore, a comprehensive genetic test, including analysis of multiple genes associated with the condition, may be necessary to identify the underlying genetic cause in some cases. A genetic counselor or healthcare professional can provide more information and guidance regarding genetic testing options.

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