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How is porphyria diagnosed?

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Blood, urine, and stool tests are done to diagnose porphyria. The best time to be tested is during an outbreak of symptoms or around that time.

Sometimes multiple tests are necessary to diagnosis porphyria. Because porphyria often runs in families, other family members can be tested and counseled after a positive diagnosis.

SOURCES:

National Human Genome Research Institute: "Learning about Porphyria."

NIH Rare Diseases Clinical Research Network: "Porphyria Overview," "Treatment and Prevention," "Acute Intermittent Porphyria," "Frequently Asked Questions"

American Porphyria Foundation: "Porphyria Cutanea Tarda," "Congenital Erythropoietic Porphyria (CEP)," "Variegate Porphyria (VP)," "Hepatoerythropoietic Porphyria (HEP)," "ALAD-Deficiency Porphyria (ADP)," "About Porphyria."

Genetic and Rare Diseases Information Center: "Porphyria Cutanea Tarda."

Reviewed by Hansa D. Bhargava on January 20, 2021

SOURCES:

National Human Genome Research Institute: "Learning about Porphyria."

NIH Rare Diseases Clinical Research Network: "Porphyria Overview," "Treatment and Prevention," "Acute Intermittent Porphyria," "Frequently Asked Questions"

American Porphyria Foundation: "Porphyria Cutanea Tarda," "Congenital Erythropoietic Porphyria (CEP)," "Variegate Porphyria (VP)," "Hepatoerythropoietic Porphyria (HEP)," "ALAD-Deficiency Porphyria (ADP)," "About Porphyria."

Genetic and Rare Diseases Information Center: "Porphyria Cutanea Tarda."

Reviewed by Hansa D. Bhargava on January 20, 2021

From: Porphyria

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