Short Description

NGS genetic DNA test detecets for variant and mutation detection in RAD21 gene for Cornelia de Lange syndrome type 4

PreTest Information

Clinical History of Patient who is going for RAD21 Gene Cornelia de Lange syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RAD21 Gene Cornelia de Lange syndrome type 4 NGS Genetic DNA Test gene RAD21

Detail Description

RAD21 Gene Cornelia de Lange Syndrome Type 4 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects many parts of the body. It is caused by mutations in several different genes. One of these genes is RAD21, which is located on chromosome 8.

RAD21 gene mutations are responsible for causing Cornelia de Lange Syndrome Type 4 (CdLS4). This type of CdLS is characterized by severe intellectual disability, distinctive facial features, and growth delays. It is estimated that approximately 1% of all CdLS cases are caused by RAD21 gene mutations.

Symptoms of Cornelia de Lange Syndrome Type 4

The symptoms of CdLS4 can vary from person to person, but some common signs and symptoms include:

• Severe intellectual disability
• Distinctive facial features, including arched eyebrows, long eyelashes, and a small head circumference
• Growth delays, including short stature and low weight
• Gastrointestinal problems, such as reflux and constipation
• Heart defects

Diagnosis of Cornelia de Lange Syndrome Type 4

Diagnosing CdLS4 can be challenging because it is a rare disorder and its symptoms can be similar to other conditions. However, genetic testing can help confirm a diagnosis of CdLS4. Specifically, Next Generation Sequencing (NGS) technology can be used to identify mutations in the RAD21 gene.

If you suspect that you or a loved one may have CdLS4, it is important to speak with a genetic counselor or medical professional. They can help determine whether genetic testing is necessary and provide guidance on the best course of action.

Cost of RAD21 Gene Cornelia de Lange Syndrome Type 4 NGS Genetic DNA Test

The cost of the RAD21 gene Cornelia de Lange Syndrome Type 4 NGS Genetic DNA Test in India is INR:20000. This includes the cost of the test itself as well as any necessary counseling and interpretation of the results.

Contact DNA Labs India for More Information

If you would like more information about the RAD21 gene Cornelia de Lange Syndrome Type 4 NGS Genetic DNA Test, or if you would like to schedule a test, please contact DNA Labs India. Our team of experienced professionals can help answer any questions you may have and provide guidance on the best course of action.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for RAD21 Gene Cornelia de Lange syndrome type 4 NGS Genetic DNA Test