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 Creatine deficiency syndrome X-linked

Detail Description

SLC6A8 Gene Creatine Deficiency Syndrome X-linked NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

SLC6A8 gene creatine deficiency syndrome is a rare genetic disorder that affects the production and transport of creatine in the body. This condition is caused by mutations in the SLC6A8 gene, which provides instructions for making a protein that transports creatine into cells. Creatine is a molecule that plays an important role in providing energy to muscles and other tissues in the body.

Symptoms of SLC6A8 Gene Creatine Deficiency Syndrome:

The symptoms of SLC6A8 gene creatine deficiency syndrome vary widely from person to person, but can include:

• Developmental delays
• Intellectual disability
• Speech and language delays
• Behavioral problems
• Seizures
• Muscle weakness and cramping
• Low muscle tone
• Feeding difficulties
• Growth delays

Diagnosis of SLC6A8 Gene Creatine Deficiency Syndrome:

SLC6A8 gene creatine deficiency syndrome is diagnosed using genetic testing. A blood or saliva sample is taken from the patient and analyzed using next-generation sequencing (NGS) technology. This allows for the detection of mutations in the SLC6A8 gene that cause the condition.

NGS Genetic DNA Test Cost INR:20000:

The cost of an NGS genetic DNA test for SLC6A8 gene creatine deficiency syndrome in India is typically around INR 20000. However, the cost may vary depending on the laboratory and the specific tests ordered.

Treatment of SLC6A8 Gene Creatine Deficiency Syndrome:

There is currently no cure for SLC6A8 gene creatine deficiency syndrome. Treatment is focused on managing the symptoms of the condition. This may include speech therapy, physical therapy, and medication to control seizures or behavioral problems. In some cases, creatine supplements may be used to help improve muscle function.

Conclusion:

SLC6A8 gene creatine deficiency syndrome is a rare genetic disorder that affects the production and transport of creatine in the body. It can cause a wide range of symptoms, including developmental delays, intellectual disability, and seizures. Diagnosis is typically done using genetic testing, and treatment is focused on managing the symptoms of the condition. If you suspect that you or a loved one may have SLC6A8 gene creatine deficiency syndrome, talk to your doctor about genetic testing and treatment options.

At DNA Labs India, we offer comprehensive genetic testing services for a wide range of conditions, including SLC6A8 gene creatine deficiency syndrome. Our NGS genetic DNA test for SLC6A8 gene creatine deficiency syndrome is accurate, reliable, and affordable. Contact us today to learn more about our services and how we can help you.