84120 Porphyrins, urine; quantitation and fractionation

Name of the Procedure:

Porphyrins, Urine; Quantitation and Fractionation (also known as Urine Porphyrin Test)

Summary

The urine porphyrin test measures the levels and various types of porphyrins in your urine. Porphyrins are chemicals that help form essential substances in your body, including hemoglobin. This test helps to diagnose and monitor disorders known as porphyrias.

Purpose

The test is carried out to diagnose and monitor conditions called porphyrias, which are a group of disorders caused by abnormalities in the chemical steps that lead to heme production. It helps identify the specific type of porphyria, understand the extent of the condition, and plan appropriate treatments.

Indications

• Unexplained abdominal pain
• Neurological symptoms (like seizures or acute confusion)
• Skin sensitivity to sunlight
• Dark or reddish urine
• Family history of porphyrias

Preparation

• Avoid alcohol and certain medications as directed by your healthcare provider for at least 24 hours before the test.
• Collect urine over a 24-hour period.
• Store the urine container in a cool, dark place or refrigerated as instructed during and after the collection until it is returned to the lab.

Procedure Description

1. Gather the urine collection container provided by the lab.
2. On the first day, empty your bladder in the morning without collecting this urine. Note the time.
3. Collect all urine passed for the next 24 hours in the container, including the last urination at the end of the 24-hour period.
4. Handle and store the container as instructed.
5. Deliver the collected urine to the laboratory as soon as possible after the 24-hour collection is completed. Detailed analysis using techniques like high-performance liquid chromatography (HPLC) identifies and quantifies the porphyrins present.

Duration

The collection takes 24 hours, but the patient interaction for instructions takes only a few minutes. Lab analysis usually takes several days.

Setting

The urine collection is done at home or in a setting where the patient is comfortable. The analysis is performed in a clinical laboratory.

Personnel

• Patient (for collecting the urine sample)
• Lab technician or healthcare provider (for analysis and instruction)

Risks and Complications

• No physical risks involved in urine collection.
• Misleading results if the sample is not collected or stored properly.
• Stress related to following the 24-hour collection instructions accurately.

Benefits

• Accurate diagnosis of specific porphyria.
• Identification allows for targeted treatment and management.
• Early diagnosis can prevent complications from the disorder.

Recovery

No recovery needed as the procedure is non-invasive. Follow any special instructions provided by your healthcare provider based on test results.

Alternatives

• Blood tests to measure porphyrins.
• Genetic testing for porphyria-related mutations.
• Stool studies for porphyrin levels. Alternatives may require invasive procedures or are used in conjunction with urine tests for comprehensive diagnosis.

Patient Experience

• Minimally disruptive, but requires diligent adherence to collection instructions.
• No pain or physical discomfort during the procedure.
• Handling and storing the sample might be inconvenient but essential for accurate results.