Name of the Procedure:

G6PD (Glucose-6-Phosphate Dehydrogenase) Gene Analysis; Common Variant(s) (e.g., A, A-)

Summary

G6PD gene analysis is a blood test used to detect variations in the G6PD gene, which can lead to conditions like hemolytic anemia and jaundice. This gene helps protect red blood cells from damage due to oxidative stress.

Purpose

The procedure addresses medical conditions such as hemolytic anemia and jaundice, which can result from G6PD deficiency. The goal is to diagnose this genetic condition, allowing for appropriate management and treatment.

Indications

• Symptoms of hemolytic anemia (e.g., fatigue, dark urine, rapid heart rate)
• Unexplained jaundice
• Family history of G6PD deficiency
• People of African, Mediterranean, or Asian descent, who are at higher risk

Preparation

• No special preparation is typically needed for the patient.
• It is crucial to inform the healthcare provider of any existing medications or supplements.

Procedure Description

1. A healthcare professional will draw a blood sample from a vein, usually in the arm.
2. The blood sample is sent to a laboratory for DNA extraction and analysis.
3. The lab uses specialized techniques to identify common G6PD gene variants (e.g., A, A-).

Tools/Equipment:

• Sterile needle and syringe
• Blood collection tubes
• Laboratory testing equipment for DNA analysis

Anesthesia/Sedation:

• Not required for blood draw

Duration

The blood draw itself takes about 5-10 minutes. Results from the gene analysis typically take a few days to a few weeks, depending on the laboratory.

Setting

The blood draw is performed in an outpatient setting, such as a doctor’s office, clinic, or hospital laboratory.

Personnel

• Phlebotomist or nurse to draw blood
• Laboratory technicians to analyze the sample
• Genetic counselor or physician to interpret and discuss results

Risks and Complications

• Mild discomfort or bruising at the blood draw site
• Rare risk of infection at the puncture site
• Psychological impact of genetic results

Benefits

• Accurate diagnosis of G6PD deficiency
• Informs appropriate treatment and management strategies
• Helps prevent complications related to the deficiency

Recovery

• No recovery time needed from the blood draw itself
• Follow-up consultation to discuss results

Alternatives

• Enzyme activity assays to measure G6PD activity levels in red blood cells
  • Pros: Immediate understanding of enzyme activity.
  • Cons: May not identify specific gene variants.

Patient Experience

• Minor discomfort during blood draw
• Little to no pain post-procedure
• Psychological preparation for receiving genetic information is essential

Pain Management:

• Cold compresses or over-the-counter pain relievers if bruising occurs