PREVIOUS QUESTION:

 

NEXT QUESTION:

 

How is porphyria diagnosed?

ANSWER

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.

From: Porphyria WebMD Medical Reference

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 Melinda Ratini on August 16, 2017

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 Melinda Ratini on August 16, 2017

NEXT QUESTION:

How do doctors diagnose and treat UTIs?

WAS THIS ANSWER HELPFUL

THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for general informational purposes only and does not address individual circumstances. It is not a substitute for professional medical advice, diagnosis or treatment and should not be relied on to make decisions about your health. Never ignore professional medical advice in seeking treatment because of something you have read on the WebMD Site. If you think you may have a medical emergency, immediately call your doctor or dial 911.

    This tool does not provide medical advice. See additional information.

    Other Answers On: