Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARFGEF2 gene for Periventricular heterotopia with microcephaly

PreTest Information

Clinical History of Patient who is going for ARFGEF2 Gene Periventricular heterotopia with microcephaly NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ARFGEF2 Gene Periventricular heterotopia with microcephaly

Detail Description

ARFGEF2 Gene Periventricular Heterotopia with Microcephaly NGS Genetic DNA Test

Periventricular heterotopia with microcephaly is a rare genetic disorder that affects brain development. The disorder is caused by mutations in the ARFGEF2 gene, which plays a crucial role in the formation and function of neurons in the brain. This disorder is characterized by abnormal migration of neurons during brain development, resulting in the formation of nodules or clumps of gray matter near the ventricles of the brain.

Symptoms of Periventricular Heterotopia with Microcephaly

The symptoms of periventricular heterotopia with microcephaly can vary widely in severity and presentation. Some common symptoms include:

• Delayed development of motor skills
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Microcephaly (abnormally small head size)
• Vision problems

Diagnosis of Periventricular Heterotopia with Microcephaly

Diagnosis of periventricular heterotopia with microcephaly can be challenging as symptoms may be non-specific and can overlap with other conditions. Genetic testing is the most reliable way to confirm a diagnosis. The ARFGEF2 gene periventricular heterotopia with microcephaly NGS genetic DNA test is a highly accurate and reliable test that can detect mutations in the ARFGEF2 gene.

The Cost of ARFGEF2 Gene Periventricular Heterotopia with Microcephaly NGS Genetic DNA Test

The cost of the ARFGEF2 gene periventricular heterotopia with microcephaly NGS genetic DNA test in India is INR 20,000. This test is not covered by insurance and is an out-of-pocket expense for patients. However, the cost of the test may vary depending on the laboratory and location.

Conclusion

Periventricular heterotopia with microcephaly is a rare genetic disorder that can have a significant impact on a patient's quality of life. Early diagnosis is crucial for providing appropriate treatment and support. The ARFGEF2 gene periventricular heterotopia with microcephaly NGS genetic DNA test is a highly accurate and reliable way to confirm a diagnosis. If you or a loved one are experiencing symptoms of periventricular heterotopia with microcephaly, it is essential to speak with a healthcare professional and consider genetic testing.

For more information on genetic testing and DNA labs in India, visit DNA Labs India.