SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test
Introduction
The SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test is a critical diagnostic test used to assess genetic conditions that affect the metabolism of creatine. Creatine is essential for energy production in the brain, and deficiencies can lead to severe neurological issues. This test utilizes Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive results.
What the Test Measures
This test measures mutations in the SLC6A8 gene, which are responsible for creatine deficiency syndrome. By analyzing the genetic material, the test can detect specific alterations that may lead to metabolic disorders.
Who Should Consider This Test?
Individuals exhibiting symptoms such as developmental delays, intellectual disabilities, or seizures should consider this test. Additionally, those with a family history of creatine deficiency or related metabolic disorders are encouraged to undergo testing.
Benefits of Taking the Test
- Early diagnosis of metabolic disorders related to creatine deficiency.
- Informed decision-making regarding treatment and management options.
- Understanding genetic risks for family members.
- Access to genetic counseling for personalized support.
Understanding Your Results
After testing, results will be provided detailing any identified mutations. A genetic counselor will help interpret the results, explaining their significance and potential implications for treatment and family planning.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test | 40000 KSh | 56000 KSh |
Sample Type and Instructions
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card.
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with creatine deficiency syndrome X-linked.
Book Your Test Today!
We have branches across all major cities in Kenya, making it easy for you to access our services. To book the SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
