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 is a rare genetic disorder that affects the body's ability to process glucose, leading to diabetes. It is caused by mutations in the EIF2AK3 gene, which provides instructions for making a protein called eukaryotic translation initiation factor 2-alpha kinase 3. This protein helps to regulate the production of insulin and other hormones involved in glucose metabolism.

Wolcott-Rallison syndrome is typically diagnosed in childhood, and symptoms can include:

• Early-onset diabetes
• Growth retardation
• Abnormalities of the liver, pancreas, and kidneys
• Recurrent infections
• Developmental delays

Because Wolcott-Rallison syndrome is a rare disorder, it can be difficult to diagnose. However, advances in genetic testing have made it easier to identify mutations in the EIF2AK3 gene. NGS (next-generation sequencing) is a type of genetic testing that can sequence the entire genome in a matter of days, allowing doctors to identify mutations that may be causing a patient's symptoms.

At DNA Labs India, we offer an NGS genetic DNA test for Wolcott-Rallison syndrome that costs INR 20,000. This test involves sequencing the EIF2AK3 gene to identify any mutations that may be causing the patient's symptoms. The test is non-invasive and requires only a small blood sample.

If you or a loved one is experiencing symptoms of Wolcott-Rallison syndrome, it is important to seek medical attention as soon as possible. Early diagnosis can help to improve outcomes and quality of life for patients with this rare disorder.