SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test
The SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the SLC6A8 gene that can lead to creatine deficiency. Creatine is vital for energy metabolism, particularly in the brain, and its deficiency can result in significant neurological issues.
Importance of the Test
This test is crucial for individuals who exhibit symptoms of creatine deficiency, which can include developmental delays, intellectual disability, and seizures. By identifying genetic mutations, healthcare providers can offer tailored treatment options to manage symptoms effectively.
What the Test Measures
The test detects specific genetic mutations in the SLC6A8 gene through Next Generation Sequencing (NGS) technology. It provides insight into how these mutations may affect creatine transport and metabolism in the body.
Who Should Consider This Test?
Individuals who should consider this test include:
- Those with a family history of metabolic disorders.
- Patients presenting symptoms such as developmental delays or seizures.
- Individuals undergoing genetic counseling for hereditary conditions.
Benefits of Taking the Test
- Accurate diagnosis of creatine deficiency syndrome.
- Guidance for treatment options tailored to specific genetic findings.
- Informed family planning through genetic counseling.
- Peace of mind through understanding one’s genetic health.
Understanding Your Results
Results will typically be available within 3 to 4 weeks. A genetic counselor will help interpret the findings and discuss the implications for treatment and family planning. It’s essential to understand both positive and negative results to make informed health decisions.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test, please contact us at +2348077798758. Our team is here to assist you and provide any additional information you may need.
Pre-test instructions include providing a clinical history and undergoing a genetic counseling session to create a pedigree chart of affected family members. Sample types accepted are blood, extracted DNA, or one drop of blood on an FTA card.
Take control of your health today with the SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test!
