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PIEZO2 Gene Marden-Walker syndrome NGS Genetic DNA Test Details
PIEZO2 Gene and Marden-Walker Syndrome: Understanding the Importance of NGS Genetic DNA Test
Genetic testing has become an integral part of modern medicine, enabling healthcare professionals to diagnose and treat genetic disorders in a more effective manner. One such genetic disorder is Marden-Walker syndrome, which is caused by mutations in the PIEZO2 gene. In this blog, we will take a closer look at the PIEZO2 gene, Marden-Walker syndrome, and the importance of NGS genetic DNA testing in the diagnosis of this condition.
What is the PIEZO2 Gene?
The PIEZO2 gene is responsible for the production of a protein that is involved in the process of mechanotransduction. This process involves the conversion of mechanical stimuli, such as pressure or stretch, into electrical signals that can be interpreted by the nervous system. The PIEZO2 protein is particularly important in the development and function of touch receptors in the skin and joints.
What is Marden-Walker Syndrome?
Marden-Walker syndrome is a rare genetic disorder that is characterized by a combination of physical and developmental abnormalities. These abnormalities can include joint contractures, muscle weakness, facial dysmorphism, and intellectual disability. The syndrome is caused by mutations in the PIEZO2 gene, which disrupt the normal functioning of the protein produced by this gene.
Importance of NGS Genetic DNA Test in Diagnosis
NGS (Next-Generation Sequencing) genetic DNA testing is a powerful tool that can be used to identify mutations in the PIEZO2 gene that are associated with Marden-Walker syndrome. This type of testing is particularly useful in cases where a diagnosis cannot be made based on clinical features alone. NGS testing can also help identify carriers of the mutation, which can be useful for family planning purposes.
Cost of NGS Genetic DNA Test
The cost of NGS genetic DNA testing for Marden-Walker syndrome in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and the extent of the genetic analysis required.
Symptoms of Marden-Walker Syndrome
The symptoms of Marden-Walker syndrome can vary from person to person, but typically include:
- Joint contractures
- Muscle weakness
- Facial dysmorphism
- Intellectual disability
- Delayed speech and motor development
- Eye abnormalities
Diagnosis of Marden-Walker Syndrome
Diagnosis of Marden-Walker syndrome typically involves a combination of clinical evaluation, imaging studies, and genetic testing. NGS genetic DNA testing can help identify mutations in the PIEZO2 gene that are associated with this condition, allowing for a more accurate diagnosis.
Conclusion
Marden-Walker syndrome is a rare genetic disorder that can cause a wide range of physical and developmental abnormalities. NGS genetic DNA testing is an important tool in the diagnosis of this condition, allowing for the identification of mutations in the PIEZO2 gene that are associated with Marden-Walker syndrome. If you or a loved one are exhibiting symptoms of this condition, it is important to speak with a healthcare professional and consider undergoing genetic testing to ensure an accurate diagnosis and appropriate treatment.
At DNA Labs India, we offer comprehensive genetic testing services, including NGS genetic DNA testing for Marden-Walker syndrome. Contact us today to learn more about our services and how we can help you.
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