Easy sampling, transportation and storage –> from all around the world. One Blood Spot –> Many Possibilities.
For physicians in Europe, Middle East or Africa: Please contact your local Sanofi Genzyme office for more information on your diagnostic service.
We perform enzyme activity testing from Dried Blood Spots. In case of a positive test result, it is possible to perform genetic confirmatory testing from the same Dried Blood Spot card without the need of a second sample.
We provide genetic testing from single Dried Blood Spots cards for confirmatory testing after a positive enzyme activity test, or to help to aid you in the diagnosis of your patient. Please contact us for assisting you in the diagnosis of your patient.
Request lyso-GL-3 (lyso-Gb3) as an additional test for Fabry disease (see Reference 1 and 2 below). We are working on novel biomarkers for assisting you in the diagnosis of Lysosomal Storage Diseases.
Research and clinical studies.
We support you in performing Clinical Research Studies by providing novel laboratory tests including biochemical, genetic and biomarker testing. Please contact us to evaluate our possibilities together to improve the health of patients with rare diseases.
→ Visit also our Clinical Research Section.
1. Aerts JM et al. Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008. PMID: 18287059.
2. Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet. 2015 Jan 16. PMID: 25596309.