U.S. Porphyria labs
There are only a few laboratories in the United States that can perform the complex analysis to diagnose Porphyria. The laboratories listed with a ** are overseen by a Porphyria expert who can consult with your physician about your test results. It is always best to have your doctor's office call the laboratory before sending samples to verify collection and shipping instructions.
University of Texas Medical Branch**
Porphyria Center
Dr. Karl Anderson
RT-J 09 Ewing Hall
Galveston, TX 77550
(409) 772-4661
ARUP Laboratories**
University of Utah
500 Chipeta Way
Salt Lake City, UT 84108
(801) 583-2787
Fairview University Diagnostic Laboratories
University Campus, Mayo Bldg., Room D-293
420 Delaware Street SE (UH-198)
Minneapolis, MN 55455
(612)-273-7838
Please note: This lab does urine tests on site; blood and stool samples are sent out to the University of Texas, Galveston Porphyria Laboratory for testing and interpretation.
Mount Sinai Medical Center**
Department of Human Genetics
Dana Doheny, MS, CGC, Genetic Counselor
Porphyria DNA Testing Laboratory
Department of Human Genetics & Genomic Sciences
Mount Sinai School of Medicine
1425 Madison Avenue, Room 14-74, Box 1498
New York, NY 10029-6574
Tel: (212) 659-6779
Email: porphyria@mssm.edu
DNA testing for six porphyrias: AIP, HCP, VP, f-PCT, EPP, CEP
Quest Diagnostics
33608 Ortega Highway
San Juan Capistrano, CA 92690
(800) 642-4657
AT PRESENT LABCORP & QUEST ARE NOT RECOMMENDED FOR EPP TESTING
Mayo Medical Laboratories
Tel: (800) 533-1710 or (507) 266-2888
Fax: (507) 266-2888
Please note: The physician or hospital ordering the tests should phone ahead to the laboratory before ordering tests or shipping samples. Telephone consultation is provided to health care professionals only. Direct patient consultation is not provided over the telephone.
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