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International Center for Fabry DiseaseDiagnostic StudiesThe 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 Toll Free Number (USA): (866) 322-7963 |