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Related Subjects: |Acute Porphyrias |Variegate Porphyria |Acute Intermittent Porphyria (AIP) |Porphyria Cutanea Tarda (PCT) |Porphyria Testing
All samples collected must be protected from light. Collection Bottles: Blood - Purple EDTA, Urine - White plain 20ml universal,Faeces - Blue Faecal 20 ml universal
Porphyria - Acute symptomatic | Tests |
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This should be selected when an undiagnosed patient is experiencing an acute neurovisceral attack, e.g. severe pain, nausea, constipation and confusion. This can be seen in Acute intermittent porphyria; Hereditary coproporphyria; and Variegate porphyria. | Total urine porphyrin quantitation, Urgent Porphobilinogen - please provide an additional urine bottle for this test, Blood porphyrin screen (plasma scan) |
Porphyria - Cutaneous bullous | Tests |
This should be used in cases where Porphyria cutanea tarda; Hereditary coproporphyria; or Congenital erythropoietic porphyria are suspected based on skin symptoms. | Total urine porphyrin quantitation Blood porphyrin screen (plasma scan) |
Porphyria - Photosensitive cutaneous | Tests |
This should be used where the patient presents with acute photosensitivity and Erythropoietic protoporphyria or X-linked dominant protoporphyria are suspected. | Blood porphyrin screen (plasma scan) only. |
Porphyria - Asymptomatic | Tests |
This collection is to be used for patients with a previous or suspected history or a family history of porphyria. Please provide clinical details of the individual and/or affected family member. |
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