Porphyrin Tests : labtest

Why Get Tested?
To help diagnose and sometimes to monitor porphyrias
When to Get Tested?
When a patient has symptoms that suggest an acute neurologic/psychiatric porphyria, such as abdominal pain, tingling in hands or feet, and/or confusion or hallucinations, or that suggest a cutaneous porphyria, such as reddening, blistering, or scarring on sun-exposed skin
Sample Required?
A blood sample drawn from a vein in your arm, a random or 24-hour urine sample, and/or a stool sample

How is it used?
Porphyrin testing is used to help diagnose and sometimes to monitor porphyrias. Since the symptoms associated with these disorders may also be seen in a variety of other conditions, testing is also used to help rule out the presence of a porphyria in someone who presents with neurologic/psychiatric or cutaneous symptoms.
For acute attacks, porphobilinogen (PBG) and urine porphyrins may be ordered on a random urine sample. If these are abnormal, they are followed by delta-Aminolevulinic Acid (ALA), PBG, and/or porphyrin testing on a 24-hour urine sample. Fecal porphyrins may be ordered to help distinguish between VP and HCP.

For cutaneous porphyrias, whole blood and urine porphyrins are the most frequently ordered tests. They are used to help diagnose a porphyria and may be used to monitor a porphyria. Enzyme testing, such as PBG deaminase, may be ordered to help detect latent porphyrias in family members of a patient with a diagnosed porphyria.

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