Medical Genetics and Genomics

Porphyria Comprehensive Diagnostic and Treatment Center

At the Porphyria Comprehensive Diagnostic and Treatment Center at Mount Sinai, our team of experts is committed to providing advanced clinical and diagnostic services for children and adults affected with acute or cutaneous porphyria. Porphyria is 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 provide consultations 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 doctors 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. Our program 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.