Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACY1 gene for Aminoacylase deficiency

PreTest Information

Clinical History of Patient who is going for ACY1 Gene Aminoacylase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Aminoacylase deficiency

Detail Description

ACY1 Gene Aminoacylase Deficiency NGS Genetic DNA Test Cost INR 20,000 Symptoms Diagnosis

ACY1 gene aminoacylase deficiency is a rare genetic disorder that affects the breakdown of certain amino acids. This can lead to a buildup of toxic substances in the body, resulting in a range of symptoms. A genetic test using next-generation sequencing (NGS) can help diagnose the condition. Here is everything you need to know about ACY1 gene aminoacylase deficiency, including its symptoms, diagnosis, and the cost of the NGS genetic DNA test.

What is ACY1 Gene Aminoacylase Deficiency?

ACY1 gene aminoacylase deficiency is a rare genetic disorder that affects the breakdown of certain amino acids. Specifically, it affects the breakdown of acylase amino acids, which can lead to a buildup of toxic substances in the body. This can result in a range of symptoms, including developmental delay, intellectual disability, seizures, and problems with movement and coordination.

What are the Symptoms of ACY1 Gene Aminoacylase Deficiency?

The symptoms of ACY1 gene aminoacylase deficiency can vary widely from person to person. Some individuals may have mild symptoms, while others may have more severe symptoms. Some common symptoms of the condition include:

• Developmental delay
• Intellectual disability
• Seizures
• Problems with movement and coordination
• Speech and language difficulties
• Behavioral problems

It is important to note that not everyone with ACY1 gene aminoacylase deficiency will experience all of these symptoms.

How is ACY1 Gene Aminoacylase Deficiency Diagnosed?

ACY1 gene aminoacylase deficiency is diagnosed through genetic testing. Specifically, a test using next-generation sequencing (NGS) can help identify mutations in the ACY1 gene, which is responsible for producing the aminoacylase enzyme. This test can be performed on a blood or saliva sample.

What is the Cost of the NGS Genetic DNA Test for ACY1 Gene Aminoacylase Deficiency?

The cost of the NGS genetic DNA test for ACY1 gene aminoacylase deficiency in India is approximately INR 20,000. This cost may vary depending on the specific laboratory performing the test and any additional fees that may be associated with the test.

Conclusion

ACY1 gene aminoacylase deficiency is a rare genetic disorder that can lead to a range of symptoms. A genetic test using next-generation sequencing can help diagnose the condition. If you or a loved one is experiencing symptoms of ACY1 gene aminoacylase deficiency, speak with a healthcare provider about genetic testing options.