Name of the Procedure:

UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) Gene Analysis, Common Variants (*28, *36, *37)

Summary

UGT1A1 gene analysis is a genetic test that identifies specific variants in the UGT1A1 gene, which can influence drug metabolism and are associated with conditions like Gilbert syndrome. It involves examining common variants such as *28, *36, and *37 to understand the patient's genetic predispositions.

Purpose

Medical Condition or Problem Addressed

• Drug metabolism variations
• Hereditary unconjugated hyperbilirubinemia (Gilbert syndrome)

Goals or Expected Outcomes

• Personalized medication dosing
• Diagnosis of Gilbert syndrome
• Understanding bilirubin metabolism issues

Indications

Symptoms or Conditions

• Unexplained jaundice
• Family history of Gilbert syndrome
• Adverse reactions to medications metabolized by the UGT1A1 enzyme

Patient Criteria

• Patients experiencing abnormal bilirubin levels
• Patients prior to starting medication metabolized by UGT1A1

Preparation

• No specific preparation required
• Routine medical history and physical examination may be conducted

Procedure Description

Step-by-Step Explanation

1. Sample Collection: A blood or saliva sample is collected from the patient.
2. DNA Extraction: The genetic material is extracted from the sample in a laboratory.
3. Gene Analysis: The UGT1A1 gene is sequenced to identify common variants (*28, *36, *37).

Tools and Technology

• Blood collection kit
• DNA sequencing equipment

Sedation

• None required

Duration

• Sample collection: 10-15 minutes
• Analysis result: Typically 1-2 weeks

Setting

• Outpatient clinic
• Diagnostic laboratory

Personnel

• Phlebotomist or nurse (for sample collection)
• Geneticist or laboratory technician (for gene analysis)
• Physician or genetic counselor (to interpret results)

Risks and Complications

Common Risks

• Minor discomfort or bruising at the blood draw site

Rare Risks

• Inadequate sample requiring recollection

Management of Complications

• Proper technique to minimize blood draw discomfort

Benefits

• Accurate diagnosis of Gilbert syndrome
• Tailored medication plans for better efficacy and safety
• Early detection of metabolic issues

Realization of Benefits

• Benefits are typically realized shortly after results are reviewed, within a few weeks.

Recovery

• No recovery time needed
• Normal activities can be resumed immediately

Alternatives

Other Treatment Options

• Clinical diagnosis based on symptoms
• Alternative drug metabolism tests

Comparison of Alternatives

• Genetic testing offers precise and specific information compared to clinical diagnosis.

Patient Experience

• During the Procedure: Minimal discomfort during blood draw.
• After the Procedure: No significant pain or discomfort expected.