Can new testing reveal your diagnosis? That’s what our latest toolkit discusses as it delves into subjects like whole genome sequencing, exome sequencing, and working with genetic counselors.

Genetic Testing: Is This My Path to a Diagnosis is part of a series of educational toolkits that provide critical information on topics important to the rare disease community. Other toolkits available include:

The latest toolkit includes commentary from experts like Dr. Ada Hamosh, professor with the Department of Pediatrics and Institute of Genetic Medicine at John Hopkins, Liz Horn, principal of LHC Biosolutions,  and John Wilbanks, the chief Commons Officer of Sage Bionetworks.

View the new toolkit here:

Close View of a DNA Strand

Learn about limitations to genetic testing, opportunities, and the risks and benefits of utilizing this new technology.

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