There are situations where the diagnostic pathway does not function as it should.
Genetic testing may already have been proposed.
Clinical suspicion may already be present.
In some cases, even prior analyses have been performed.
What is missing is the ability to access appropriate testing
within a clinically meaningful timeframe.
Patients may reach out after years without a clear diagnostic direction.
Genetic testing may have been performed, but not in a way that resolves the clinical question.
Access to appropriate analysis may be delayed or unavailable.
Serious clinical concerns may remain unresolved.
In these situations, the diagnostic process needs space.
Space to move beyond local constraints.
Space to access the appropriate test.
Space to reach a clinically meaningful answer.
Access may begin with a direct request from the patient,
or through referral by a physician.
Each case is reviewed individually.
The objective is not simply to review a case,
but to structure a coherent diagnostic pathway
and enable access to the appropriate genomic analysis.
In some cases, waiting is no longer a neutral option.
Genomic Testing for International Patients
Remote consultation
For physicians