Concurrent or recent clinical manifestations | Initial testing | Additional testing (if initial results are positive) | Types of porphyria identified | Enzyme and DNA tests |
Acute neurovisceral | Spot urine PBG and total porphyrins (normalized with urine creatinine) | Spot urine ALA, PBG, and total porphyrins (quantitative, normalized with urine creatinine) Plasma porphyrins* Erythrocyte porphyrins¶ Fecal porphyrins | Delta-aminolevulinic acid dehydratase porphyria (ADP) | Erythrocyte ALAD Sequence ALAD gene |
Acute intermittent porphyria (AIP) | Erythrocyte PBGD Sequence PBGD gene | |||
Hereditary coproporphyria (HCP) | Sequence CPOX gene | |||
Variegate porphyria (VP) | Sequence PPOX gene | |||
Blistering photosensitivity | Total porphyrins (plasma*, serum, or spot urine), with fractionation if elevated | Erythrocyte total porphyrins Urinary ALA and PBG Fecal total porphyrins | Porphyria cutanea tarda (PCT) | Erythrocyte UROD Sequence UROD geneΔ |
Hepatoerythropoietic porphyria (HEP) | Erythrocyte UROD Sequence UROD gene | |||
HCP | Sequence CPOX gene | |||
VP | Sequence PPOX gene | |||
Congenital erythropoietic porphyria (CEP) | Erythrocyte UROS Sequence UROS gene | |||
Nonblistering photosensitivity | Total erythrocyte porphyrins¶ | Erythrocyte metal-free and zinc protoporphyrin; plasma total porphyrins and fluorescence scan | Erythropoietic protoporphyria (EPP) | Sequence FECH gene |
X-linked protoporphyria (XLP) | Sequence ALAS2 gene |
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