Short Description

NGS genetic DNA test detecets for variant and mutation detection in UGT1A1 gene for Crigler-Najjar syndrome, type 2

PreTest Information

Clinical History of Patient who is going for UGT1A1 Gene Crigler-Najjar syndrome, type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UGT1A1 Gene Crigler-Najjar syndrome, type 2 NGS Genetic DNA Test gene UGT1A1

Detail Description

UGT1A1 Gene Crigler-Najjar Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Crigler-Najjar Syndrome is a rare genetic disorder that affects the body's ability to break down bilirubin, a substance produced during the normal breakdown of red blood cells. The UGT1A1 gene is responsible for producing an enzyme that helps break down bilirubin. In individuals with Crigler-Najjar Syndrome, the UGT1A1 gene is mutated, resulting in a deficiency of the enzyme and an accumulation of bilirubin in the blood.

Symptoms of Crigler-Najjar Syndrome

The symptoms of Crigler-Najjar Syndrome may vary depending on the severity of the condition. Individuals with Crigler-Najjar Syndrome type 1 have a complete absence of the enzyme and experience severe jaundice shortly after birth. This form of the condition is life-threatening and requires immediate medical attention.

Crigler-Najjar Syndrome type 2 is less severe, with individuals having some enzyme activity. Symptoms may develop in childhood or adolescence and can include:

• Yellowing of the skin and eyes
• Abdominal pain
• Dark urine
• Fatigue

Diagnosis of Crigler-Najjar Syndrome

A diagnosis of Crigler-Najjar Syndrome is typically made through blood tests that measure bilirubin levels and liver function. Genetic testing can also be performed to identify mutations in the UGT1A1 gene.

NGS Genetic DNA Test Cost in India

Next-generation sequencing (NGS) is a type of genetic testing that can be used to identify mutations in the UGT1A1 gene. The cost of NGS genetic DNA testing for Crigler-Najjar Syndrome in India typically ranges from INR 15,000 to INR 20,000.

NGS testing can be a valuable tool for individuals with a family history of Crigler-Najjar Syndrome or those who are experiencing symptoms of the condition. Early diagnosis can help to prevent complications and improve outcomes.

Conclusion

Crigler-Najjar Syndrome is a rare genetic disorder that can result in severe jaundice and other complications. Genetic testing, including NGS testing, can help to identify mutations in the UGT1A1 gene and provide an early diagnosis. If you or a loved one is experiencing symptoms of Crigler-Najjar Syndrome, it is important to speak with a healthcare provider about testing options.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for Crigler-Najjar Syndrome. Contact us today to learn more about our services and how we can help you.