Short Description

NGS genetic DNA test detecets for variant and mutation detection in NIPBL gene for Cornelia de Lange syndrome type 1

PreTest Information

Clinical History of Patient who is going for NIPBL Gene Cornelia de Lange syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NIPBL Gene Cornelia de Lange syndrome type 1 NGS Genetic DNA Test gene NIPBL

Detail Description

NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects approximately 1 in 10,000 to 30,000 live births worldwide. The disorder is characterized by various physical, cognitive, and behavioral abnormalities. CdLS is caused by mutations in several genes, including NIPBL (Nipped-B-like protein), which is involved in the regulation of gene expression during development.

Symptoms of Cornelia de Lange Syndrome

The symptoms of CdLS can vary widely from person to person. However, some common physical characteristics include:

• Growth retardation
• Microcephaly (small head size)
• Limb abnormalities
• Gastrointestinal abnormalities
• Feeding difficulties
• Developmental delays

In addition to physical characteristics, CdLS can also cause cognitive and behavioral abnormalities such as:

• Intellectual disability
• Autism spectrum disorder
• Self-injurious behavior
• Aggressive behavior
• Anxiety
• Sleep disturbances

Diagnosis of Cornelia de Lange Syndrome

The diagnosis of CdLS is based on clinical features and genetic testing. A clinical evaluation can be performed by a geneticist or other healthcare professional who specializes in genetic disorders. The evaluation may include a physical examination, medical history, and developmental assessment.

Genetic testing can confirm the diagnosis of CdLS. The most common type of genetic testing for CdLS is Next Generation Sequencing (NGS). NGS is a high-throughput DNA sequencing technology that can analyze multiple genes at once. The cost of NGS genetic DNA test for CdLS in India is approximately INR 20,000.

Conclusion

Cornelia de Lange Syndrome is a rare genetic disorder that can cause a range of physical, cognitive, and behavioral abnormalities. NGS genetic DNA test can confirm the diagnosis of CdLS. If you suspect that you or a loved one has CdLS, it is important to consult with a healthcare professional who specializes in genetic disorders.

At DNA Labs India, we offer NGS genetic DNA testing for CdLS and other genetic disorders. Our tests are performed using state-of-the-art technology and are conducted by highly trained and experienced professionals. Contact us today to learn more about our services.