Short Description

NGS genetic DNA test detecets for variant and mutation detection in TUBA8 gene for Polymicrogyria with optic nerve hypoplasia

PreTest Information

Clinical History of Patient who is going for TUBA8 Gene Polymicrogyria with optic nerve hypoplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TUBA8 Gene Polymicrogyria with optic nerve hypoplasia NGS Genetic DNA Test gene TUBA8

Detail Description

TUBA8 Gene Polymicrogyria with Optic Nerve Hypoplasia NGS Genetic DNA Test

DNA Labs India offers a comprehensive genetic testing solution for individuals suspected of having TUBA8 gene polymicrogyria with optic nerve hypoplasia. This NGS genetic DNA test helps in the diagnosis of this condition with an affordable cost of INR 20,000. In this blog, we will discuss the symptoms, diagnosis, and importance of genetic testing for TUBA8 gene polymicrogyria with optic nerve hypoplasia.

What is TUBA8 Gene Polymicrogyria with Optic Nerve Hypoplasia?

TUBA8 gene polymicrogyria with optic nerve hypoplasia is a rare genetic disorder that affects the development of the brain and eyes. In this condition, the surface of the brain has an abnormal pattern of folds and the optic nerve, which connects the eye to the brain, is underdeveloped. As a result, individuals with this condition may have intellectual disability, developmental delay, seizures, and vision problems.

Symptoms of TUBA8 Gene Polymicrogyria with Optic Nerve Hypoplasia

The symptoms of TUBA8 gene polymicrogyria with optic nerve hypoplasia can vary from person to person. Some of the common symptoms include:

• Intellectual disability
• Developmental delay
• Seizures
• Vision problems
• Abnormal muscle tone
• Difficulty with movement
• Microcephaly (small head size)

Diagnosis of TUBA8 Gene Polymicrogyria with Optic Nerve Hypoplasia

The diagnosis of TUBA8 gene polymicrogyria with optic nerve hypoplasia is based on the symptoms and a physical examination by a healthcare professional. Genetic testing can also help in confirming the diagnosis. The NGS genetic DNA test offered by DNA Labs India can detect mutations in the TUBA8 gene that are associated with this condition.

Importance of Genetic Testing

Genetic testing for TUBA8 gene polymicrogyria with optic nerve hypoplasia can help in confirming the diagnosis and identifying the specific genetic mutations that are responsible for the condition. This information can help healthcare professionals develop a personalized treatment plan and provide appropriate support and resources for individuals and their families.

Moreover, genetic testing can also help in identifying carriers of the condition and can be useful for family planning purposes. It is important to note that genetic testing is not a substitute for a clinical diagnosis and should always be done under the guidance of a healthcare professional.

Conclusion

TUBA8 gene polymicrogyria with optic nerve hypoplasia is a rare genetic disorder that affects the development of the brain and eyes. The NGS genetic DNA test offered by DNA Labs India can help in confirming the diagnosis of this condition with an affordable cost of INR 20,000. Genetic testing can provide valuable information for healthcare professionals and families, and can help in developing a personalized treatment plan. If you suspect that you or a loved one may have TUBA8 gene polymicrogyria with optic nerve hypoplasia, speak to your healthcare professional about genetic testing.

For more information about genetic testing and other services offered by DNA Labs India, visit our website today.