Medical Genetics and Genomics

Porphyria Comprehensive Diagnostic and Treatment Center

Two female members of medical staff speaking and looking at paper

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 multidisciplinary team includes three board-certified physicians with expertise in porphyria, board-certified or board-eligible genetic counselors, a DNA diagnostic laboratory, and a dedicated research team. Through this integrated clinical, diagnostic, and research program, we are committed to excellence in porphyria care and to educating and training the next generation of physicians and specialists in the field.