Short Description

NGS genetic DNA test detecets for variant and mutation detection in SMC1A gene for Cornelia de Lange syndrome type 2

PreTest Information

Clinical History of Patient who is going for SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic DNA Test gene SMC1A

Detail Description

SMC1A Gene and Cornelia de Lange Syndrome Type 2

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple parts of the body. It is usually diagnosed in early childhood and can cause a wide range of physical, cognitive, and behavioral challenges. CdLS is caused by mutations in one of several genes, including the SMC1A gene.

What is the SMC1A Gene?

The SMC1A gene provides instructions for making a protein called structural maintenance of chromosomes 1A. This protein plays a critical role in the maintenance and repair of DNA during cell division. Mutations in the SMC1A gene can disrupt the normal functioning of this protein, leading to a range of health problems.

Cornelia de Lange Syndrome Type 2

CdLS is a genetic disorder that affects many systems of the body, including growth and development, cognitive function, and behavior. There are several different types of CdLS, each caused by mutations in different genes. CdLS Type 2 is caused by mutations in the SMC1A gene.

Symptoms of CdLS Type 2

The symptoms of CdLS Type 2 can vary widely from person to person, but often include:

• Low birth weight and slow growth
• Delayed development, including motor and cognitive skills
• Distinctive facial features, such as a small head size, thin eyebrows, and a small mouth and chin
• Gastrointestinal problems, such as reflux and constipation
• Seizures
• Behavioral challenges, such as anxiety and self-injurious behavior

Diagnosis of CdLS Type 2

CdLS Type 2 is usually diagnosed through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the SMC1A gene. Other tests, such as imaging studies or developmental assessments, may also be used to help diagnose and manage the condition.

NGS Genetic DNA Test Cost

The cost of a NGS genetic DNA test for CdLS Type 2 can vary depending on the specific test and the laboratory performing the test. At DNA Labs India, the cost for this test is INR 20,000.

Conclusion

CdLS Type 2 is a rare genetic disorder caused by mutations in the SMC1A gene. Symptoms can vary widely, but often include developmental delays, distinctive facial features, and behavioral challenges. Diagnosis is usually made through genetic testing, which can be costly. If you suspect that you or a loved one may have CdLS Type 2, it is important to speak with a healthcare provider for further evaluation and management.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for CdLS Type 2. Our team of experienced professionals is committed to providing accurate and timely results to help patients and their families make informed decisions about their health. Contact us today to learn more about our services and how we can help you.