Short Description

NGS genetic DNA test detecets for variant and mutation detection in GATM gene for Arginine-glycine amidinotransferase deficiency

PreTest Information

Clinical History of Patient who is going for GATM Gene Arginine-glycine amidinotransferase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Arginine-glycine amidinotransferase deficiency

Detail Description

GATM Gene Arginine-glycine amidinotransferase deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Arginine-glycine amidinotransferase (GATM) is an enzyme that plays an important role in the production of creatine, a molecule that helps provide energy to muscles. GATM gene mutations can cause GATM deficiency, a rare genetic disorder that affects the body's ability to produce creatine. This deficiency can lead to a range of symptoms, including muscle weakness, developmental delays, and intellectual disability.

Symptoms of GATM Deficiency

The symptoms of GATM deficiency can vary widely depending on the severity of the mutation and the age of onset. Some common symptoms include:

• Muscle weakness and fatigue
• Developmental delays
• Intellectual disability
• Behavioral problems
• Speech and language delays
• Seizures
• Abnormal muscle movements

Diagnosis of GATM Deficiency

GATM deficiency is diagnosed through a genetic test that looks for mutations in the GATM gene. This test can be done using a sample of blood or saliva. If a mutation is found, additional testing may be done to confirm the diagnosis and determine the severity of the mutation.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for GATM deficiency in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and the type of test performed. It is important to discuss the cost and insurance coverage with the testing facility before undergoing any genetic testing.

Conclusion

GATM deficiency is a rare genetic disorder that can cause a range of symptoms, including muscle weakness, developmental delays, and intellectual disability. Diagnosis is done through a genetic test that looks for mutations in the GATM gene. The cost of an NGS genetic DNA test for GATM deficiency in India is approximately INR 20,000. If you or a loved one is experiencing symptoms of GATM deficiency, it is important to speak with a healthcare provider about genetic testing and treatment options.