Short Description

NGS genetic DNA test detecets for variant and mutation detection in AASS gene for Saccharopinuria

PreTest Information

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

Detail Description

Understanding AASS Gene and Saccharopinuria

AASS gene is responsible for producing an enzyme called alpha-aminoadipic semialdehyde synthase, which plays a critical role in breaking down lysine, an essential amino acid. When AASS gene is mutated, it can lead to a rare genetic disorder called Saccharopinuria. This condition is characterized by the accumulation of saccharopine, a chemical that is usually broken down by AASS enzyme, in the body.

Symptoms of Saccharopinuria

Saccharopinuria is a rare genetic disorder, and its symptoms may vary from person to person. Some of the common symptoms of saccharopinuria include:

• Developmental delays
• Seizures
• Intellectual disability
• Abnormal muscle tone
• Hyperactivity
• Speech problems
• Behavioral problems

Diagnosis of Saccharopinuria

Saccharopinuria can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a popular genetic testing technique that can identify mutations in the AASS gene. NGS is a powerful tool that can provide a comprehensive analysis of the patient's genome, making it easier to diagnose rare genetic disorders such as saccharopinuria.

Cost of AASS Gene Saccharopinuria NGS Genetic DNA Test

The cost of AASS gene saccharopinuria NGS genetic DNA test in India may vary from one laboratory to another. However, on average, the cost of this test is around INR 20,000. It is essential to note that the cost may vary depending on the laboratory's location, the type of test, and the complexity of the analysis.

Conclusion

Saccharopinuria is a rare genetic disorder that can be challenging to diagnose. However, with advanced genetic testing techniques such as NGS, it is possible to identify mutations in the AASS gene and diagnose saccharopinuria. If you or your loved one is exhibiting symptoms of saccharopinuria, it is essential to consult a genetic counselor and get the necessary tests done.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS genetic DNA testing for AASS gene saccharopinuria. Contact us to learn more about our services and how we can help you get the answers you need.