Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATIC gene for AICA-ribosiduria due to ATIC deficiency

PreTest Information

Clinical History of Patient who is going for ATIC Gene AICA-ribosiduria due to ATIC deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AICA-ribosiduria due to ATIC deficiency

Detail Description

ATIC Gene AICA-ribosiduria due to ATIC deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India is a leading provider of genetic testing services in India. One of the genetic tests offered by DNA Labs India is the NGS Genetic DNA Test for ATIC Gene AICA-ribosiduria due to ATIC deficiency. This test is used to diagnose individuals who may be suffering from this rare genetic disorder.

What is ATIC Gene AICA-ribosiduria due to ATIC deficiency?

ATIC Gene AICA-ribosiduria due to ATIC deficiency is a rare genetic disorder that affects the production of purines, which are building blocks of DNA and RNA. This disorder is caused by mutations in the ATIC gene, which is responsible for encoding an enzyme involved in purine synthesis.

Symptoms of ATIC Gene AICA-ribosiduria due to ATIC deficiency

The symptoms of ATIC Gene AICA-ribosiduria due to ATIC deficiency can vary widely from person to person. Some common symptoms include:

• Delayed development
• Seizures
• Intellectual disability
• Microcephaly (small head size)
• Low muscle tone
• Failure to thrive (poor growth)

Diagnosis of ATIC Gene AICA-ribosiduria due to ATIC deficiency

The diagnosis of ATIC Gene AICA-ribosiduria due to ATIC deficiency is typically made through genetic testing. This may include NGS Genetic DNA testing, which can identify mutations in the ATIC gene that may be causing the disorder. Other diagnostic tests may include:

• Physical exam
• Blood tests
• Urine tests
• Brain imaging

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for ATIC Gene AICA-ribosiduria due to ATIC deficiency at DNA Labs India is INR 20000. This cost includes the genetic testing and the interpretation of the results by a qualified genetic counselor.

Conclusion

ATIC Gene AICA-ribosiduria due to ATIC deficiency is a rare genetic disorder that can cause a range of symptoms, including delayed development, seizures, and intellectual disability. The disorder is typically diagnosed through genetic testing, including NGS Genetic DNA testing, which is available at DNA Labs India for a cost of INR 20000.

If you suspect that you or a loved one may be suffering from ATIC Gene AICA-ribosiduria due to ATIC deficiency, it is important to speak with a qualified healthcare provider or genetic counselor to discuss the available diagnostic tests and treatment options.

At DNA Labs India, we are committed to providing our clients with accurate and reliable genetic testing services, including NGS Genetic DNA testing for rare genetic disorders like ATIC Gene AICA-ribosiduria due to ATIC deficiency. Contact us today to learn more about our genetic testing services and how we can help you.