Porphyria Comprehensive Diagnostic and Treatment Center

The Porphyria Comprehensive Diagnostic and Treatment Center at Mount Sinai Health System is dedicated to providing advanced clinical and diagnostic services for the treatment of children and adults affected with acute or cutaneous porphyria. Porphyria encompasses a group of rare inherited or acquired disorders in which substances called porphyrins build up in the blood, causing neurological complications or skin problems.

We offer consultation and clinical evaluations for individuals with confirmed diagnoses of porphyria (by biochemical testing and/or DNA testing), and diagnosis by DNA analysis for seven types of porphyrias.

Our team includes three board certified physicians with an expertise in porphyria, genetic counselors, each of whom is board certified and board eligible by the American Board of Genetic Counseling, a DNA diagnostic laboratory, and a research team. The Center is supported by The American Porphyria Foundation's "Protect Our Future" program, which attracts and trains the next generation of doctors and future specialists in the field of porphyria.

Contact Us

To schedule an appointment, please call 212-241-6790.

Schedule an Appointment

Tel: 212-241-6790
Fax: 212-860-3316

The Mount Sinai Health System
1428 Madison Ave (at 99th Street)
Atran Building, 1st Floor
New York, NY 10029

Mailing Address:
Division of Medical Genetics
Department of Genetics and Genomic Sciences
One Gustave L. Levy Place
Box 1497
New York, NY 10029-6574