Diagnosis and Patient Care

The National Gaucher Disease Treatment Center brings together multidisciplinary expertise to diagnosis and treat Gaucher Disease (Types 1-3). Our comprehensive approach is to diagnosis and evaluate the burden of disease through a series of tests, all conducted at our facility. We are then able to identify the optimal treatment path for each patient. 

Diagnostic and Evaluation Testing: 

  • Lab Work 
  • MRI Imaging 
  • Dexa Imaging 
  • X-ray 
  • Echocardiogram 
  • EKG 
Our initial testing is conducted over a 1-2 day period with the frequency and duration determined by the needs of each patient. For more information on our diagnosis and patient care or to make an appointment, please call 203.785.3412 or 203.785.3197.

Make an Appointment

We are located at: 

Yale Physicians Building
800 Howard Avenue, 4th Floor
New Haven, CT 

To make an appointment, please call 203.785.3412 or 203.785.3197. 

We look forward to answering your questions and being a part of your healthcare team.