Porphobilinogen (Quantitative), Urine Spot

This test measures the levels of porphobilinogen in your urine spot sample. 

The Porphobilinogen (Quantitative), Urine Spot test is mainly done to

• Diagnose or rule out acute intermittent porphyria (AIP) and other types of porphyrias associated with neurologic and/or psychiatric symptoms.
• Determine if the symptoms a person is experiencing are due to a specific type of porphyria, guiding appropriate treatment decisions.

Your doctor may recommend this test if you have symptoms suggestive of acute intermittent porphyria or other types of porphyrias associated with neurologic and/or psychiatric symptoms. This includes abdominal pain, neuropathy, mental disturbances, and urine that darkens upon exposure to light. Individuals with a family history of porphyria may also undergo this test.

Elevated levels of porphobilinogen may indicate acute intermittent porphyria or certain other types of porphyrias. 

During the Porphobilinogen (Quantitative), Urine Spot test, you will need to provide a 10 ml spot urine sample in a dark-coloured bottle. The sample should be protected from light and refrigerated until it is brought to the laboratory.

To prepare for this test:

• Collect a spot urine sample following the specific instructions given by your healthcare provider.
• Use a dark-coloured bottle to collect the sample.
• Protect the sample from light and refrigerate it until you bring it to the laboratory.
• Follow any additional instructions provided by your doctor regarding diet, medications, or other preparations.

Please reach out to your healthcare provider for any specific requirements.

Other tests that may be ordered alongside the Porphobilinogen (Quantitative), Urine Spot test include:

• Plasma porphyrins: This blood test measures the levels of porphyrins, which are precursors to porphobilinogen, helping in the diagnosis of certain types of porphyrias.
• Genetic testing: This test identifies specific gene mutations associated with porphyrias to confirm the diagnosis and assess the risk of passing on the condition to future generations.

Spot urine porphobilinogen test, urine porphobilinogen test.

Acute intermittent porphyria (AIP) is a rare genetic disorder that affects the production of heme, a crucial component of haemoglobin. It is characterised by periodic attacks of severe abdominal pain, neuropathy, mental disturbances, and darkening of urine upon exposure to light. Timely diagnosis and management are important to prevent complications and manage symptoms effectively.