What is a rare disease? A disease is classified as rare when it affects fewer than 1 in 2,000 people. Yet rare diseases are — collectively — far from rare. There are more than 7,000 known rare diseases, and together they affect an estimated 8 to 10% of the European population. That means tens of millions of people across the EU are living with a condition that most doctors will never encounter in their career.

The consequences of this are profound. Rare disease patients — and their families — frequently face years of uncertainty, misdiagnosis, and unanswered questions. The average patient waits 5 to 7 years before receiving a correct diagnosis. This is not a failure of goodwill. It is a consequence of limited medical knowledge, insufficient diagnostic tools, and healthcare systems that are simply not designed with rare diseases in mind.

Patients with rare diseases are too often left outside the system — not because nobody cares, but because the knowledge and the tools to help them have not been accessible enough.

That is what rarediagnostics.eu is here to change.
We offer specialist biochemical diagnostics — developed and validated by our laboratory in Warsaw over more than 12 years — directly to patients, families and clinicians across Europe. Using the dried blood spot (DBS) method, we remove the barriers of geography, complexity and access. Your sample travels to us. Your results come back to you. And with the right diagnosis, the right care can finally begin.