Short Description

NGS genetic DNA test detecets for variant and mutation detection in EIF2AK3 gene for Wolcott-Rallison syndrome

PreTest Information

Clinical History of Patient who is going for EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic DNA Test gene EIF2AK3

Detail Description

EIF2AK3 Gene Wolcott-Rallison Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Wolcott-Rallison syndrome (WRS) is a rare genetic disorder that affects multiple systems in the body. It is caused by a mutation in the EIF2AK3 gene, which is responsible for encoding the protein PERK. This protein is involved in the regulation of the endoplasmic reticulum (ER) stress response, which is necessary for normal functioning of the pancreas.

WRS is characterized by early-onset diabetes mellitus, multiple epiphyseal dysplasia, growth retardation, and other symptoms. The disorder typically presents in infancy or early childhood and can be diagnosed through genetic testing.

Symptoms of Wolcott-Rallison Syndrome

The symptoms of WRS can vary depending on the severity of the mutation. Common symptoms include:

• Early-onset diabetes mellitus
• Multiple epiphyseal dysplasia
• Growth retardation
• Recurrent episodes of acute liver failure
• Severe insulin resistance
• Intellectual disability
• Delayed puberty
• Short stature

Diagnosis of Wolcott-Rallison Syndrome

WRS can be diagnosed through genetic testing. Specifically, Next Generation Sequencing (NGS) is used to analyze the EIF2AK3 gene for mutations. This technology allows for the simultaneous analysis of multiple genes and has a high degree of accuracy.

The cost of an NGS genetic DNA test for WRS in India is approximately INR 20,000. This cost may vary depending on the specific laboratory conducting the test and any additional services that may be included.

Conclusion

Wolcott-Rallison syndrome is a rare genetic disorder that can have serious consequences for those affected. Early diagnosis through genetic testing is crucial for effective management and treatment of the disorder. If you or a loved one are experiencing symptoms of WRS, it is important to speak with a healthcare provider and consider genetic testing as a possible diagnostic tool.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for Wolcott-Rallison syndrome. Our team of experienced professionals is dedicated to providing accurate and timely results to help you make informed decisions about your health. Contact us today to learn more about our services and how we can help you.