Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDKN1C gene for IMAGE syndrome

PreTest Information

Clinical History of Patient who is going for CDKN1C Gene IMAGE syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDKN1C Gene IMAGE syndrome NGS Genetic DNA Test gene CDKN1C

Detail Description

Understanding CDKN1C Gene and IMAGE Syndrome

CDKN1C gene is a gene that plays a vital role in regulating the growth and development of the body. Mutations in this gene can lead to several genetic disorders, one of them being the IMAGE syndrome.

IMAGE syndrome is a rare genetic disorder that affects multiple parts of the body. This condition is caused due to mutations in the CDKN1C gene, which leads to abnormal growth and development of various organs.

What are the Symptoms of IMAGE Syndrome?

The symptoms of IMAGE syndrome can vary widely among affected individuals. Some of the common signs and symptoms of this condition are:

• Abnormal growth and development of the body
• Distinct facial features, including a small head circumference, low-set ears, and a small jaw
• Abnormalities in the limbs, such as missing fingers or toes, or abnormal curvature of the bones
• Developmental delays, such as delayed speech and motor skills
• Intellectual disability
• Seizures
• Heart defects

How is IMAGE Syndrome Diagnosed?

IMAGE syndrome is diagnosed using a genetic test called Next-Generation Sequencing (NGS) DNA test. This test can detect mutations in the CDKN1C gene, which confirms the diagnosis of IMAGE syndrome.

What is the Cost of the NGS Genetic DNA Test for IMAGE Syndrome?

The cost of the NGS Genetic DNA test for IMAGE syndrome in India is approximately INR 20,000. However, the cost may vary depending on the location and the diagnostic center.

Conclusion

IMAGE syndrome is a rare genetic disorder that affects multiple parts of the body. Mutations in the CDKN1C gene cause this condition. The symptoms of IMAGE syndrome can vary widely among affected individuals and can be diagnosed using the NGS Genetic DNA test. If you suspect that you or your child may have IMAGE syndrome, it is important to seek medical attention and get a proper diagnosis.

At DNA Labs India, we offer NGS Genetic DNA testing for IMAGE Syndrome at an affordable cost. Our team of experts uses state-of-the-art technology and equipment to provide accurate and reliable results. Contact us today to schedule a consultation or to learn more about our genetic testing services.