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.