No clinic visit required. EU-wide delivery. Results within 10 business days.

  •  Medical Laboratory Expertise


    Tests are performed by Masdiag, a medical diagnostic laboratory in Warsaw, specialising in DBS-based diagnostics since 2012 and having analysed over 1 million dried blood spot samples.

  •  DBS Sampling From Home 

    Our dried blood spot collection kits allow a small capillary blood sample to be collected at home, without the need to visit a blood collection centre, and sent directly to our laboratory for analysis.

  • Rare Disease Focus

    Our test portfolio focuses on biochemical markers relevant to selected rare and inherited metabolic disorders, including amino acid, fatty acid and neurotransmitter metabolism.

Why rarediagnostics.eu exists

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.

Our diagnostic tests

All four tests use dried blood spots (DBS). The standard home kit is for fingertip sampling only. For a newborn or young infant, contact our laboratory before ordering to arrange appropriate collection.

What is a dried blood spot test?

A dried blood spot (DBS) is a small sample of blood collected on a special filter paper card, dried and sent to our laboratory by post. Adults and children for whom fingertip collection is appropriate can use the standard home kit.

Newborn screening programmes also use DBS cards, with a dedicated collection procedure. For newborns and young infants, contact our laboratory before ordering. Do not use the enclosed fingertip lancet for heel-prick collection.

Learn more about the DBS method

Rare diseases are more common than you think

  • 7,000+

    Known rare diseases

  • 8–10%

    Of Europeans affected

  • 5–7 years

    Average diagnostic delay

  • 500,000+

    DBS samples analysed by our laboratory

Our mission is to help reduce that 5–7 year wait — one test at a time.

Who we work with

  • For patients and families:

    If you are living with a rare metabolic condition — or searching for a diagnosis — our tests offer a precise, accessible path forward. Order directly, collect at home, and share your results with your specialist.

    Explore our tests 

  • For clinicians and researchers:

    We work with metabolic physicians, clinical geneticists, neurologists, and academic research institutions across Europe and beyond. Institutional ordering and research collaboration enquiries are welcome.

    Contact us