Gilberts syndrome UGT1A1 (Sanger sequencing)

Gilbert's Syndrome (UGT1A1 Sanger Sequencing)

We remind you that independent interpretation of the results is unacceptable, the information provided below is for reference purposes only.

Gilbert's syndrome is a genetic disorder characterized by mild, intermittent elevations in unconjugated bilirubin levels in the blood. It is caused by a hereditary deficiency in the enzyme uridine diphosphate-glucuronosyltransferase (UGT1A1), which is responsible for the conjugation and subsequent excretion of bilirubin, a byproduct of the breakdown of hemoglobin.

The Role of UGT1A1 Enzyme

The UGT1A1 enzyme plays a crucial role in the metabolism and clearance of bilirubin from the body. It catalyzes the conjugation of bilirubin with glucuronic acid, a process that makes bilirubin water-soluble and facilitates its excretion through bile and urine.

Individuals with Gilbert's syndrome have a genetic variation in the UGT1A1 gene, leading to a reduced activity of the UGT1A1 enzyme. As a result, the conjugation and excretion of bilirubin are impaired, causing mild elevations in unconjugated bilirubin levels in the blood.

While Gilbert's syndrome is generally benign and asymptomatic, some individuals may experience mild jaundice (yellowing of the skin and eyes) during periods of stress, fasting, or illness. However, it does not typically cause any significant health problems or complications.

Role of Gilbert's Syndrome and UGT1A1 Gene

Gilbert's syndrome is a genetic condition characterized by mild, intermittent elevations in unconjugated bilirubin levels. The UGT1A1 gene plays a crucial role in this disorder. It encodes an enzyme called UDP-glucuronosyltransferase 1A1, which is responsible for the conjugation and subsequent elimination of bilirubin from the body. Variations or mutations in the UGT1A1 gene can lead to reduced enzyme activity, resulting in impaired bilirubin metabolism and the development of Gilbert's syndrome.

Indications for UGT1A1 (Sanger Sequencing) Analysis

The UGT1A1 (Sanger Sequencing) analysis is recommended in the following scenarios:

• Evaluation of elevated bilirubin levels: If an individual exhibits persistent or recurrent episodes of unconjugated hyperbilirubinemia (elevated bilirubin levels), testing for UGT1A1 gene mutations can help confirm the diagnosis of Gilbert's syndrome and differentiate it from other liver conditions.
• Family history of Gilbert's syndrome: Individuals with a family history of Gilbert's syndrome may undergo UGT1A1 gene analysis to determine their predisposition to the condition.
• Preoperative screening: In some cases, UGT1A1 gene analysis may be recommended before certain surgical procedures or treatments that could potentially exacerbate hyperbilirubinemia in individuals with Gilbert's syndrome.

Preparation for the Procedure

The preparation for the Gilbert's Syndrome UGT1A1 (Sanger Sequencing) analysis is relatively simple and does not require any special measures. However, there are a few recommendations to consider:

• Fasting: The test can be performed in a fasted or non-fasted state. However, if the test is part of a comprehensive blood panel, it may be recommended to fast for 8-12 hours before the blood draw.
• Avoiding Strenuous Exercise: It is advisable to avoid intense physical activity on the day before the test, as it may affect the results.
• Abstaining from Alcohol and Smoking: Refrain from consuming alcohol and smoking for at least 24 hours before the test, as these activities can influence the test results.
• Hydration: Proper hydration is essential to facilitate the blood draw process. Dehydration can make it more difficult to obtain a sufficient blood sample.
• Medication: Inform your healthcare provider about any medications you are taking, as some drugs may impact the test results.

Procedure

The blood sample for the Gilbert's Syndrome UGT1A1 (Sanger Sequencing) analysis is typically collected from a vein in the arm, usually in the area of the elbow crease. The procedure is performed by a trained healthcare professional and takes only a few minutes. After the blood draw, you may experience minor bleeding or bruising at the site, which should resolve on its own within a few days.

Gilbert's Syndrome UGT1A1 (Sanger Sequencing)

The UGT1A1 gene sequencing is a genetic test that analyzes the UGT1A1 gene, which is responsible for coding an enzyme called UDP-glucuronosyltransferase 1A1 (UGT1A1). This enzyme plays a crucial role in the metabolism and excretion of bilirubin, a byproduct of the breakdown of hemoglobin.

Sanger sequencing is a widely used method for determining the precise order of nucleotides (A, T, C, and G) in a DNA sequence. In the case of Gilbert's syndrome, Sanger sequencing is employed to identify specific mutations or variations in the UGT1A1 gene that are associated with the condition. This analysis can help diagnose Gilbert's syndrome and differentiate it from other causes of elevated bilirubin levels.

Sources:

https://mugenomicscore.missouri.edu/PDF/fragment-analysis-chemistry-guide.pdf
https://assets.thermofisher.com/TFS-Assets/GSD/brochures/dna-fragment-analysis-brochure.pdf
https://www.thermofisher.com/us/en/home/life-science/sequencing/sequencing-learning-center/capillary-electrophoresis-information/how-conduct-fragment-analysis.html
https://assets.thermofisher.cn/TFS-Assets/GSD/Technical-Notes/fragment-analysis-guide-technote.pdf
https://www.thermofisher.com/us/en/home/life-science/sequencing/fragment-analysis/fragment-analysis-fundamentals.html

IMPORTANT!

It is crucial to remember that the information provided in this section is not intended for self-diagnosis or self-treatment. If you experience any pain or exacerbation of a condition, it is essential to consult a healthcare professional for proper diagnostic tests and treatment. Only a qualified specialist can make an accurate diagnosis and determine the appropriate treatment plan. To obtain the most accurate and consistent assessment of test results, it is recommended to have them performed at the same laboratory. This is because different laboratories may use varying methods and units of measurement for similar tests.