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 Department of Pathology

Elizabeth L. Frank, PhD, DABCC
500 Chipeta Way
Salt Lake City, UT 84108
(801) 583-2787 1-x2087

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

Hetanshi Naik, MS, CGC,
Genetic Counselor and Research Program Coordinator
Porphyria DNA Testing Laboratory
Department of Human Genetics & Genomic Sciences
Mount Sinai School of Medicine
One Gustave L Levy Place, Box 1497
New York NY 10029,
Tel: (212)-241-6711
Email: hetanshi.naik@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.