Name of the Procedure:

Glucose-6-phosphate dehydrogenase (G6PD) Gene Analysis; Full Gene Sequence

Summary

G6PD gene analysis involves sequencing the full gene to detect mutations. This test helps diagnose conditions like hemolytic anemia and jaundice caused by G6PD deficiency, where red blood cells break down prematurely.

Purpose

The procedure identifies mutations in the G6PD gene to diagnose G6PD deficiency, which can lead to hemolytic anemia and jaundice, especially under stress factors like certain medications or infections. Early diagnosis can help manage and prevent severe symptoms.

Indications

Indications for the procedure include:

• Unexplained hemolytic anemia.
• Episodes of jaundice not resolved by standard treatments.
• Family history of G6PD deficiency.
• Recurrent neonatal jaundice.
• Severe reactions to certain drugs or foods, like fava beans.

Preparation

No special preparation is usually required. However, patients should inform their healthcare provider about any medications and supplements they are taking. A simple blood sample is generally all that's needed for the test.

Procedure Description

1. Blood Sample Collection: A small blood sample is obtained via venipuncture.
2. DNA Extraction: DNA is extracted from the blood sample in a laboratory.
3. Gene Sequencing: The G6PD gene is sequenced using advanced genetic sequencing technologies to identify any mutations.
4. Analysis and Interpretation: Geneticists analyze the sequence for known and novel mutations.

No anesthesia is required for the blood draw, and the procedure is minimally invasive.

Duration

The blood draw takes about 5-10 minutes. Gene sequencing and analysis can take several days to a few weeks, depending on the laboratory's processing time.

Setting

The blood sample is collected in a healthcare provider's office, outpatient clinic, or hospital setting. The sequencing and analysis are performed in a specialized genetic laboratory.

Personnel

Involved personnel include:

• Phlebotomist or nurse for blood sample collection.
• Medical laboratory technicians and geneticists for sample processing and analysis.
• Healthcare provider or genetic counselor to discuss the results.

Risks and Complications

Common risks:

• Minor bruising or discomfort at the blood draw site.

Rare risks:

• Infection at the puncture site. Complications from the test itself are minimal since it only involves a blood sample.

Benefits

The primary benefit is accurate diagnosis of G6PD deficiency, allowing patients to take preventive measures to avoid triggers that could lead to hemolytic anemia or jaundice. Results are usually available within a few weeks, facilitating timely management.

Recovery

There is no significant recovery time. Patients can resume normal activities immediately after the blood draw. Follow-up might include genetic counseling to understand the results and any preventive measures or treatments.

Alternatives

Alternatives include:

• G6PD enzyme activity test: Less comprehensive but useful for initial screening.
• Targeted mutation analysis: Useful if specific known mutations are suspected.

Each alternative has its pros and cons; full gene sequencing is the most comprehensive but also the most expensive and time-consuming.

Patient Experience

Patients may feel a slight sting during the blood draw and minor discomfort afterward. The procedure is quick and low-risk. They should experience minimal disruption to their daily activities and will be informed when the results are ready for discussion.