Short Description

NGS genetic DNA test detecets for variant and mutation detection in AASS gene for Hyperlysinemia type 1

PreTest Information

Clinical History of Patient who is going for AASS Gene Hyperlysinemia type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperlysinemia type 1

Detail Description

AASS Gene Hyperlysinemia type 1 NGS Genetic DNA Test

Hyperlysinemia type 1 is a rare genetic disorder that is caused by mutations in the AASS gene. This gene provides instructions for making an enzyme that is involved in the breakdown of the amino acid lysine. When the AASS gene is mutated, the enzyme is not produced correctly, leading to a buildup of lysine in the body.

Hyperlysinemia type 1 can cause a range of symptoms, including intellectual disability, developmental delay, seizures, and behavioral problems. The severity of the symptoms can vary widely, even among individuals with the same mutation.

Symptoms of Hyperlysinemia type 1

The symptoms of Hyperlysinemia type 1 can vary widely, but may include:

• Intellectual disability
• Developmental delay
• Seizures
• Behavioral problems
• Speech delays
• Abnormal muscle tone
• Unusual facial features

Diagnosis of Hyperlysinemia type 1

Hyperlysinemia type 1 can be diagnosed through genetic testing, which looks for mutations in the AASS gene. This type of testing can be done through a variety of methods, including NGS (next-generation sequencing) genetic DNA testing.

NGS genetic DNA testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes at once. This can make it easier and faster to identify mutations that may be causing a particular condition.

Cost of Hyperlysinemia type 1 NGS Genetic DNA Test

The cost of Hyperlysinemia type 1 NGS Genetic DNA Test in India is typically around INR 20,000. However, the cost may vary depending on the specific testing provider and the extent of the testing that is required.

Conclusion

Hyperlysinemia type 1 is a rare genetic disorder that can cause a range of symptoms, including intellectual disability, developmental delay, seizures, and behavioral problems. It can be diagnosed through genetic testing, including NGS genetic DNA testing, which is becoming increasingly common and affordable in India.

If you suspect that you or a loved one may have Hyperlysinemia type 1, it is important to speak with a genetic counselor or healthcare provider to discuss testing options and potential treatment options.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing, to help individuals and families get answers about their genetic health. Contact us today to learn more.