Porphyrin testing is used to help diagnose and sometimes to monitor porphyrias. These disorders can be classified into two groups based on signs and symptoms: neurologic porphyrias and cutaneous porphyrias. As some porphyrias can have similar symptoms, testing is also used to help determine which type is present. A healthcare practitioner will choose individual tests based on the affected person's signs and symptoms as well as the medical and family history.Neurologic porphyrias are associated with acute attacks involving the nervous system and/or gastrointestinal tract. They include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA dehydratase deficiency porphyria (ADP).Tests for neurologic porphyrias are given below:A urine test for porphobilinogen (PBG), a porphyrin precursor, is the primary test.If the result of the PBG test is abnormal, urine porphyrin testing, which measures uroporphyrin and coproporphyrin, may be ordered to provide additional information on the type of neurologic porphyria that is present.A test to detect porphyrins in stool may be used to help distinguish between VP and HCP.Aminolevulinic acid (ALA), another porphyrin precursor, is used to diagnose the rare ALA dehydratase deficiency porphyria. ALA may be ordered along with PBG as part of the diagnostic workup, as it is usually elevated in all four of the neurologic porphyrias.Cutaneous porphyrias produce skin-related symptoms. This type includes porphyria cutanea tarda, (PCT), erythropoietic protoporphyria (EPP) and congenital erythropoietic porphyria (CEP).Tests for cutaneous porphyrias are given below:Urine porphyrin testing is ordered to evaluate adults with blisters, scarring and hyperpigmentation in sun-exposed areas of the skin (suspected PCT).A blood test for porphyrins is the best test to diagnose patients with EPP, who present with redness, itching and swelling that begins soon after sun exposure.Both blood and urine tests for porphyrins are abnormal in CEP, a rare disorder that produces extreme sensitivity to light in children.These tests may sometimes be used to monitor the disease in patients who have been diagnosed with a porphyria.Enzyme testing may be used to confirm the diagnosis of acute intermittent porphyria (by measuring porphobilinogen deaminase in red blood cells). Genetic testing for porphyria is not widely available, but it is another way to establish the diagnosis. Both types of tests may be used to identify family members who have inherited a porphyria, even if they do not have signs and symptoms of the disease
Sample Type - Urine
Reporting Time - 8 Days
Prerequisties - No special preparation required
Price - Rs 3030/-
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