Researchers at The Jackson Laboratory recently announced a test that they say can help patients struggling with a rare disease find answers sooner while saving money on healthcare costs. The JAX genome test is the only clinical whole genome sequencing test offered in Connecticut, JAX representatives said.
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Until quite recently, it was extremely difficult to detect the variants underlying many genetic disorders. In the absence of a defined cause, clinicians have little to guide treatment for those left without a genetic diagnosis, forcing patients and families to embark on a diagnostic odyssey with no guarantee of finding answers.