Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHRNA1 gene for Multiple pterygium syndrome lethal type

PreTest Information

Clinical History of Patient who is going for CHRNA1 Gene Multiple pterygium syndrome lethal type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHRNA1 Gene Multiple pterygium syndrome lethal type NGS Genetic DNA Test gene CHRNA1

Detail Description

CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Multiple pterygium syndrome lethal type is a rare genetic disorder that affects the development of the body. It is caused by mutations in the CHRNA1 gene, which is responsible for making a protein that controls muscle movement.

Symptoms of Multiple Pterygium Syndrome Lethal Type

The symptoms of multiple pterygium syndrome lethal type can vary depending on the severity of the condition. Some of the common symptoms include:

• Abnormal positioning of the fingers and toes
• Webbing of the skin between the fingers and toes
• Abnormal curvature of the spine
• Difficulty breathing due to a small chest cavity
• Weak muscle tone
• Abnormal facial features

Diagnosis of Multiple Pterygium Syndrome Lethal Type

Diagnosis of multiple pterygium syndrome lethal type is usually done through a physical exam and genetic testing. A doctor may order an NGS genetic DNA test to look for mutations in the CHRNA1 gene. This test is highly accurate and can detect even small mutations in the gene.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for multiple pterygium syndrome lethal type is around INR 20000. This cost may vary depending on the testing facility and location.

Conclusion

If you or someone you know is experiencing symptoms of multiple pterygium syndrome lethal type, it is important to seek medical attention. Genetic testing can help diagnose this rare condition and provide guidance for treatment options. The cost of an NGS genetic DNA test for multiple pterygium syndrome lethal type is around INR 20000, and can be a valuable investment in your health.

About DNA Labs India

DNA Labs India is a leading provider of genetic testing services in India. We offer a wide range of tests, including NGS genetic DNA testing for multiple pterygium syndrome lethal type. Our team of experienced professionals is dedicated to providing accurate and reliable test results to our clients. Contact us today to learn more about our services and how we can help you.