Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIGL gene for CHIME syndrome

PreTest Information

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

Detail Description

Understanding PIGL Gene and CHIME Syndrome: Symptoms, Diagnosis, and Genetic Testing

CHIME syndrome is a rare genetic disorder that affects multiple organs and systems of the body. It is caused by mutations in the PIGL gene, which encodes for a protein involved in the synthesis of glycosylphosphatidylinositol (GPI) anchors. These anchors are essential for attaching proteins to the cell membrane and are crucial for the proper functioning of cells and tissues.

Symptoms of CHIME Syndrome

CHIME syndrome is characterized by a distinct set of symptoms that affect different parts of the body. Some of the common symptoms include:

• Congenital cataracts
• Hearing loss
• Developmental delay
• Intellectual disability
• Abnormal facial features
• Seizures
• Joint and bone abnormalities
• Abnormalities in the brain and spinal cord

Most people with CHIME syndrome have all of these symptoms, although the severity can vary widely. Some people may have milder symptoms, while others may have more severe symptoms that can be life-threatening.

Diagnosing CHIME Syndrome

Diagnosing CHIME syndrome can be challenging because of its rarity and the diverse set of symptoms that can overlap with other genetic disorders. However, genetic testing can help confirm the diagnosis and identify the specific mutation in the PIGL gene responsible for the condition.

Next-generation sequencing (NGS) is a powerful tool for genetic testing that can sequence large amounts of DNA quickly and accurately. It can identify mutations in multiple genes simultaneously, including the PIGL gene. The cost of NGS genetic testing for CHIME syndrome is around INR 20,000 in India, which may vary depending on the testing facility and the type of testing performed.

Why Choose DNA Labs India for Genetic Testing?

DNA Labs India is a leading provider of genetic testing services in India, offering a wide range of tests for various genetic disorders, including CHIME syndrome. Our team of experts uses state-of-the-art technology and techniques to provide accurate and reliable results in a timely manner.

We understand the importance of genetic testing for individuals and families affected by rare genetic disorders, and we are committed to providing compassionate and personalized care to each of our patients. We also offer genetic counseling services to help patients and their families understand their test results and make informed decisions about their health.

Conclusion

CHIME syndrome is a rare genetic disorder caused by mutations in the PIGL gene. It can cause a wide range of symptoms that affect multiple organs and systems of the body. Genetic testing, such as NGS, can help diagnose CHIME syndrome and identify the specific mutation responsible for the condition. If you or someone you know has symptoms of CHIME syndrome, we encourage you to seek genetic testing and counseling services from a trusted provider like DNA Labs India.

Contact us today to learn more about our genetic testing services and how we can help you.