Short Description

NGS genetic DNA test detecets for variant and mutation detection in ESCO2 gene for Roberts syndrome

PreTest Information

Clinical History of Patient who is going for ESCO2 Gene Roberts syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ESCO2 Gene Roberts syndrome NGS Genetic DNA Test gene ESCO2

Detail Description

ESCO2 Gene Roberts Syndrome NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Roberts Syndrome, also known as Pseudothalidomide Syndrome, is a rare genetic disorder that affects approximately 1 in 100,000 to 1 in 300,000 individuals worldwide. It is characterized by multiple abnormalities that primarily affect the limbs, face, and skull. The ESCO2 gene is responsible for encoding the protein that plays a critical role in the proper separation of chromosomes during cell division. Mutations in this gene result in the formation of abnormal cells that lead to the development of Roberts Syndrome.

Symptoms of Roberts Syndrome

Roberts Syndrome affects multiple systems of the body and can present with a wide range of symptoms. Some of the common symptoms include:

• Limb abnormalities such as shortening, missing, or extra fingers or toes, and forearm or upper arm abnormalities.
• Abnormalities of the skull and face, such as a small head, widely spaced eyes, a small jaw, and cleft palate.
• Growth retardation and developmental delays.
• Abnormalities of the heart, kidneys, and other organs.

Diagnosis of Roberts Syndrome

Diagnosis of Roberts Syndrome is typically made based on clinical presentation and physical examination. However, genetic testing can confirm the diagnosis and identify the exact genetic mutation responsible for the disorder. Next-Generation Sequencing (NGS) is a powerful tool that can identify mutations in the ESCO2 gene with high accuracy and sensitivity. DNA Labs India offers a comprehensive NGS-based genetic test for Roberts Syndrome at a cost of INR 20,000.

Genetic Testing for Roberts Syndrome

NGS-based genetic testing for Roberts Syndrome involves the following steps:

1. Collection of a blood sample from the patient.
2. Isolation of DNA from the blood sample.
3. Sequencing of the DNA using NGS technology.
4. Analysis of the sequencing data to identify mutations in the ESCO2 gene.
5. Interpretation of the results by a qualified genetic counselor.

The results of genetic testing can provide valuable information about the cause of Roberts Syndrome and the chances of passing the mutation to future generations. It can also help in the management and treatment of the disorder.

Conclusion

Roberts Syndrome is a rare genetic disorder that can cause multiple abnormalities affecting the limbs, face, and skull. The ESCO2 gene is responsible for the disorder, and NGS-based genetic testing can confirm the diagnosis and identify the specific mutation responsible for the disorder. DNA Labs India offers a comprehensive NGS-based genetic test for Roberts Syndrome at a cost of INR 20,000. Early diagnosis and management of the disorder can improve the quality of life of affected individuals and their families.

For more information or to schedule a genetic test, please contact DNA Labs India.