International Center for Fabry Disease

Diagnostic Studies

The International Center for Fabry Disease performs free enzyme and mutation analysis for Fabry disease. These tests are CLIA and New York State Department of Health approved. Measurements of plasma and leukocyte a-galactosidase A activity are performed on all samples. Mutation analysis is determined on a case by case basis by the staff of the International Center for Fabry Disease.

We require intake information (name, address, date of birth, list of symptoms, doctor’s name, etc) and a signed consent/HIPAA form before testing can be performed.

Please contact Dana Doheny, M.S., G.C.G., Genetic Counselor, at The International Center for Fabry Disease by telephone, fax or email (numbers below) for sample requirements, intake sheets, consent/HIPAA forms and shipping instructions. These forms can be mailed, faxed or emailed.

Dana Doheny, M.S., G.C.G.

Genetic Counselor
International Center for Fabry Disease
Department of Genetics and Genomic Sciences
Icahn School of Medicine
Fifth Avenue at 100th Street
Box 1498
New York, NY 10029

Toll Free Number (USA): (866) 322-7963
Fax: (212) 659-6780
E-mail:  fabry.disease@mssm.edu or dana.doheny@mssm.edu