Short Description

NGS genetic DNA test detecets for variant and mutation detection in AGA gene for Aspartylglucosaminuria

PreTest Information

Clinical History of Patient who is going for AGA Gene Aspartylglucosaminuria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Aspartylglucosaminuria

Detail Description

AGA Gene Aspartylglucosaminuria NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost in India

Aspartylglucosaminuria (AGU) is a rare genetic disorder that affects the lysosomal storage of glycoproteins. This disorder is caused by mutations in the AGA gene, which encodes for the enzyme aspartylglucosaminidase. The lack of this enzyme leads to the accumulation of glycoproteins in various tissues, including the brain, liver, and spleen, causing a range of symptoms.

Symptoms of AGU

The symptoms of AGU can vary in severity and onset, depending on the amount of enzyme activity present in the individual. Some common symptoms of AGU include:

• Developmental delay
• Intellectual disability
• Seizures
• Behavioral problems
• Coarse facial features
• Enlarged liver and spleen
• Joint stiffness and pain

Diagnosis of AGU

AGU can be diagnosed through genetic testing, which can identify mutations in the AGA gene. The most common type of genetic testing used for AGU is Next Generation Sequencing (NGS), which can sequence the entire AGA gene and identify any mutations present. Other tests, such as enzyme assays and urine tests, may also be used to confirm a diagnosis of AGU.

Cost of AGU NGS Genetic DNA Test in India

The cost of AGU NGS Genetic DNA Test in India is approximately INR 20,000. However, the cost may vary depending on the lab and location. It is important to consult with a genetic counselor or healthcare provider to determine the appropriate testing and associated costs.

Conclusion

AGU is a rare genetic disorder that can cause a range of symptoms, including developmental delay, intellectual disability, seizures, and joint pain. Genetic testing, such as NGS, can help diagnose AGU and identify any mutations present in the AGA gene. The cost of AGU NGS Genetic DNA Test in India may vary, but it is important to consult with a genetic counselor or healthcare provider to determine the appropriate testing and associated costs.

For more information on AGU or genetic testing, please contact DNA Labs India.