SLC6A8 Gene Creatine Deficiency Syndrome X-Linked Genetic Test
At DNA Labs UAE, we offer the SLC6A8 Gene Creatine Deficiency Syndrome X-Linked Genetic Test. This test helps in diagnosing and understanding creatine deficiency syndrome X-linked (CDSX), a genetic disorder that primarily affects the brain.
Components and Price
The test is priced at 4400.0 AED. The sample condition required for testing can be either blood, extracted DNA, or one drop of blood on an FTA card. The report will be delivered within 3 to 4 weeks. The method used for testing is NGS (Next-Generation Sequencing) technology. The test type falls under metabolic disorders, and it is recommended to consult with a general physician for this test. The test is conducted in our Genetics department.
Pre Test Information
Before undergoing the SLC6A8 Gene Creatine Deficiency Syndrome X-Linked Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by CDSX.
Test Details
The SLC6A8 gene is responsible for producing a protein called creatine transporter, which is crucial for transporting creatine into cells. Mutations in the SLC6A8 gene can lead to CDSX. This genetic disorder primarily affects the brain, resulting in intellectual disability, speech and language delays, and behavioral problems. Other symptoms may include seizures, movement disorders, and autistic features. The severity of symptoms can vary among individuals.
NGS genetic testing is used to analyze multiple genes simultaneously. It helps identify specific genetic variations or mutations in the SLC6A8 gene, which can confirm a diagnosis of CDSX. This test can be performed using a blood or saliva sample. The sample is sent to our laboratory, where the DNA is extracted and sequenced. The obtained data is then analyzed to identify any mutations or variations in the SLC6A8 gene.
The results of the NGS genetic test provide valuable information for diagnosing CDSX and guiding appropriate medical management and genetic counseling for affected individuals and their families.
| 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 |
| 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 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 Creatine deficiency syndrome X-linked |
| Test Details |
The SLC6A8 gene is responsible for producing a protein called creatine transporter, which plays a crucial role in transporting creatine into cells. Mutations in the SLC6A8 gene can lead to a condition called creatine deficiency syndrome X-linked (CDSX). CDSX is a genetic disorder that primarily affects the brain, causing intellectual disability, speech and language delays, and behavioral problems. Other symptoms may include seizures, movement disorders, and autistic features. The severity of symptoms can vary widely among affected individuals. 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 identification of specific genetic variations or mutations in the SLC6A8 gene, which can help confirm a diagnosis of CDSX. NGS genetic testing can be performed using a blood or saliva sample. The sample is sent to a laboratory, where the DNA is extracted and sequenced. The data obtained is then analyzed to identify any mutations or variations in the SLC6A8 gene. The results of the NGS genetic test can provide valuable information for diagnosing CDSX and guiding appropriate medical management and genetic counseling for affected individuals and their families. |
