Information for Professionals

We are a non-profit, non-commercial organization based at an academic hospital with a clinic for genetic conditions and a laboratory for diagnosis and research on genetic disorders.

Besides offering clinics for most large categories of genetic disorders (developmental disability, dysmorphology, inborn errors of metabolism, prenatal genetics and counselling, oncogenetics, cardiogenetics and others), our special clinical and research expertise includes clinical and radiographic assessment of growth disorders, including endocrine disorders as well as skeletal dysplasias and genetic syndromes.

We offer assistance in diagnosis of skeletal dysplasias rather than isolated gene tests, and we will be glad to help by reviewing the clinical features and looking at the radiographs to establish a proper differential diagnosis.

Clinical and radiographic review may be carried out also within the ISDS email group or the ESDN web system.

If you wish to have diagnostic assistance, contact PD Dr. Sheila UngerProf. Luisa Bonafé, or Prof. Andrea Superti-Furga.

Please note that we can make laboratory testing dependent on previous review.

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