Gilbert's Syndrome Targeted Mutation Analysis

Gilbert's Syndrome Targeted Mutation Analysis

Non-returnable
Rs.17,000.00
Gilbert's syndrome is a common, harmless liver condition in which the liver doesn't properly process bilirubin. Bilirubin is produced by the breakdown of red blood cells.

Individuals with Gilbert syndrome have a reduced level of hepatic bilirubin UDP-glucuronosyltransferase 1A1 (UGT1A1), the enzyme necessary for the conjugation of bilirubin. 
 


Sample Type
2 mL EDTA Blood
Turnaround Time (days)
10 days
Genes
UGT1A1 c.-41_-40dupTA
Disorders
Gilbert syndrome Constitutional hepatic dysfunction Familial nonhemolytic jaundice
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Product Details
- If you have Gilbert's syndrome — also known as constitutional hepatic dysfunction and familial nonhemolytic jaundice — you're born with the condition as a result of an inherited gene mutation. 
- The most frequent sign of Gilbert's syndrome is an occasional yellowish tinge of the skin and the whites of the eyes as a result of the slightly elevated levels of bilirubin in the blood.
- Gilbert's syndrome requires no treatment.
- Individuals with Gilbert syndrome have a reduced level of hepatic bilirubin UDP-glucuronosyltransferase 1A1 (UGT1A1), the enzyme necessary for the conjugation of bilirubin. 
- This enzyme is coded for by the UGT1A1 gene. 
- A polymorphism in the promoter region of the UGT1A1 gene has been identified in 80-100% of Caucasian individuals with Gilbert syndrome. These individuals are homozygous for two extra bases (TA) in the promoter region of the gene and have an A(TA)7TAA sequence rather than an A(TA)6TAA sequence. 
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