Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC6A8 gene for Creatine deficiency syndrome X-linked

PreTest 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

Detail Description

SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test

SLC6A8 Gene Creatine Deficiency Syndrome X-Linked is a genetic disorder that affects the production of creatine in the body. Creatine is an important chemical that helps to provide energy to the muscles. This condition is caused by mutations in the SLC6A8 gene, which is responsible for the production of creatine in the body.

Symptoms of SLC6A8 Gene Creatine Deficiency Syndrome X-Linked

The symptoms of SLC6A8 Gene Creatine Deficiency Syndrome X-Linked can vary from person to person. Some of the common symptoms include:

• Delayed speech development
• Mental retardation
• Seizures
• Behavioral problems
• Attention-deficit/hyperactivity disorder (ADHD)
• Muscle weakness
• Intellectual disability

Diagnosis of SLC6A8 Gene Creatine Deficiency Syndrome X-Linked

The diagnosis of SLC6A8 Gene Creatine Deficiency Syndrome X-Linked is usually made by genetic testing. This involves testing a sample of the patient's DNA to look for mutations in the SLC6A8 gene. This test can be done using a technique called Next-Generation Sequencing (NGS), which is a high-throughput DNA sequencing technology that can analyze multiple genes at once.

Cost of SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test

The cost of the SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test in India is approximately INR 20,000.

Conclusion

SLC6A8 Gene Creatine Deficiency Syndrome X-Linked is a genetic disorder that affects the production of creatine in the body. It can cause a range of symptoms, including delayed speech development, mental retardation, seizures, and muscle weakness. The diagnosis of this condition can be made using genetic testing, such as Next-Generation Sequencing (NGS). The cost of the SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test in India is approximately INR 20,000.

If you suspect that you or a loved one may have this condition, it is important to speak with a healthcare provider to discuss your symptoms and determine the appropriate course of action.

At DNA Labs India, we offer a range of genetic testing services, including the SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test. Our team of experts can help you understand your results and provide guidance on any necessary follow-up care.

Contact us today to learn more about our services and how we can help you.