Short Description

NGS genetic DNA test detecets for variant and mutation detection in IRX5 gene for Hamamy syndrome

PreTest Information

Clinical History of Patient who is going for IRX5 Gene Hamamy syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IRX5 Gene Hamamy syndrome NGS Genetic DNA Test gene IRX5

Detail Description

IRX5 Gene and Hamamy Syndrome: Understanding the NGS Genetic DNA Test Cost and Diagnosis

Hamamy Syndrome is a rare genetic disorder that is caused by mutations in the IRX5 gene. This disorder is characterized by the presence of multiple abnormalities such as intellectual disability, abnormal facial features, and skeletal abnormalities. The prevalence of Hamamy Syndrome is unknown, but it has been reported in several countries across the world.

What is the IRX5 Gene?

The IRX5 gene is a protein-coding gene that plays a critical role in the development of the heart and other organs. Mutations in this gene have been linked to several genetic disorders, including Hamamy Syndrome.

What are the Symptoms of Hamamy Syndrome?

The symptoms of Hamamy Syndrome can vary from person to person, but they typically include:

• Intellectual disability
• Abnormal facial features, such as a small head size, widely spaced eyes, and a small jaw
• Skeletal abnormalities, such as short stature, abnormal curvature of the spine, and joint problems
• Heart defects
• Abnormalities of the urinary tract and genitals

How is Hamamy Syndrome Diagnosed?

Hamamy Syndrome is diagnosed through genetic testing. Specifically, a Next-Generation Sequencing (NGS) genetic DNA test is used to identify mutations in the IRX5 gene. This type of test is highly accurate and can detect even the smallest genetic mutations.

What is the Cost of NGS Genetic DNA Test for Hamamy Syndrome?

The cost of NGS Genetic DNA Test for Hamamy Syndrome in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and the specific tests that are performed.

Conclusion

Hamamy Syndrome is a rare genetic disorder that is caused by mutations in the IRX5 gene. The disorder is characterized by several abnormalities, including intellectual disability, abnormal facial features, and skeletal abnormalities. NGS Genetic DNA Test is used to diagnose Hamamy Syndrome, and the cost of the test in India is approximately INR 20,000. If you suspect that you or a loved one may have Hamamy Syndrome, it is important to speak with a genetic counselor or healthcare professional to discuss testing options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA Test for Hamamy Syndrome. Our team of experienced genetic counselors and healthcare professionals can help you understand your test results and provide you with the support you need. Contact us today to learn more.