Testing
US Laboratories and Specialists
There are only a few laboratories in the United States that can
perform the complex analysis to diagnose porphyria. The laboratories
listed ** are overseen by a porphyria expert who can consult with your physician about your test results.
University of Texas Medical Branch**
Porphyria Center
Dr. Karl Anderson
RT-J 09 Ewing Hall
Galveston, TX 77550
(409) 772-4661
ARUP Laboratory**
University of Utah
500 Chipeta Way
Salt Lake City, UT 84108
(801) 583-2787
Fairview University Diagnostic Laboratories
Watson
Laboratory
University Campus, Mayo Bldg., Room D-293
420 Delaware Street SE (UH-198)
Minneapolis, MN 55455
(800) 888-8642
(612) 626-3231
Mt Sinai Hospital**
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 100296574
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) 286-4643
Mayo Clinic
Biochemical Genetics Laboratory
200 First Street SW
Rochester, MN 55905
Tel: (800) 533-1710 or (507) 266-2888
Fax: (507) 266-2888
Please note: Telephone consultation is provided to health care professionals only. Direct patient consultation is not provided over the telephone.
US Specialists
Locating laboratories and physicians specializing in porphyria
is extremely important. If you would like to schedule an
appointment or have a specialist consult with your physician, please
contact the APF.
If the following specialists do not perform diagnostic tests,
they use the testing centers listed above.
Dr. Karl Anderson
University of Texas
Dr. Montgomery Bissell
University of California
Dr. Joseph R. Bloomer
University of Alabama
Dr. Herbert Bonkovsky
University of Connecticut
Dr. Sylvia Bottomley
University of Oklahoma
Dr. John Epstein
University of California
Dr. James P. Kushner
University of Utah
Dr. Michelene Mathews-Roth
Harvard University
Dr. Neville Pimstone
University of California
Dr. Maureen B. Poh-Fitzpatrick
University of Tennessee
Dr. Steven Shedlofsky
University of Kentucky
Dr. Peter V. Tishler
Harvard University
 Telemedicine Consultations
If you need to consult
with a porphyrla specialist and are unable to do so because of
distance to a porphyria center, you now have the opportunity to
consult electronically.
A porphyria specialist and Sponsor of the APF scientific advisory
board, Dr. Karl Anderson, will be consulting with porphyria patients
via a telemedicine service from the General Clinical Research Center
of the University of Texas Medical Branch at Galveston.
To access this service, you need to first locate a video teleconferencing
facility in your community. These facilities are often found in
libraries, businesses, universities, research centers. etc. Unfortunately,
neither the APF nor Dr. Anderson can provide you with a list of
facilities with teleconferencing capabilities. Next, call Dr. Karl
Anderson (409) 772-4661 to arrange for an appointment and to advise
you as to the information you might need prior to the telemedicine
visit.
During the teleconference Dr. Anderson will discuss your case
with you in the same fashion as a regular office visit. This project
was funded, in part, by the American Porphyria Foundation.
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